{"Name":"Pyruvate carboxylase deficiency","DiseaseID__c":"GARD:0007512","id":7512,"encodedName":"pyruvate-carboxylase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Pyruvate carboxylase deficiency","Xref_IDs__c":"87694001; C0034341; C85040; D015324; DOID:3651; MEDGEN:18801; MONDO:0009949; NBK6852; OMIM:266150; ORPHA:3008","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009949","Disease_Description__c":"Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.","GARD_Name__c":"Pyruvate carboxylase deficiency","GARD_Synonym__c":"ataxia with lactic acidosis ii; ataxia with lactic acidosis type 2; ataxia with lactic acidosis type ii; deficiency of pyruvate carboxylase; deficiency of pyruvic carboxylase; leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency; leigh syndrome due to pc deficiency; leigh syndrome due to pyruvate carboxylase deficiency; pc - pyruvate carboxylase deficiency; pc deficiency; pyruvate carboxylase deficiency disease","Curated_Disease_Description_Source__c":"GARD:0007512","Curated_Disease_Description__c":"Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms. Type A, which has been identified mostly in people from North America, has severe symptoms that begin in infancy. Characteristic features include developmental delay and a buildup of lactic acid in the blood (lactic acidosis). Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without food (fasting). Children with pyruvate carboxylase deficiency type A typically survive only into infancy or early childhood. Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver failure. They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Infants with this form of the condition usually survive for less than 3 months after birth. A milder form of pyruvate carboxylase deficiency, sometimes called type C, has also been described. This type is characterized by slightly increased levels of lactic acid in the blood and minimal signs and symptoms affecting the nervous system.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:3008","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009949","ORPHANET_ID__c":"ORPHA:3008","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de piruvato carboxilasa","Spanish_Description_Source__c":"ORPHA:3008","Spanish_Description__c":"El déficit de piruvato-carboxilasa (PC) es un trastorno neurometabólico raro caracterizado por acidosis metabólica, retraso en el crecimiento y en el desarrollo y convulsiones recurrentes a una edad temprana en pacientes gravemente afectados.","Spanish_Disease_Name__c":"deficiencia de piruvato carboxilasa","Spanish_GARD_Synonym__c":"ataxia con acidosis láctica tipo 2; ataxia con acidosis láctica tipo ii; encefalopatía necrosante de leigh por deficiencia de piruvato carboxilasa; síndrome de leigh por deficiencia de pc; síndrome de leigh por deficiencia de piruvato carboxilasa","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms. Type A, which has been identified mostly in people from North America, has severe symptoms that begin in infancy. Characteristic features include developmental delay and a buildup of lactic acid in the blood (lactic acidosis). Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without food (fasting). Children with pyruvate carboxylase deficiency type A typically survive only into infancy or early childhood. Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver failure. They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Infants with this form of the condition usually survive for less than 3 months after birth. A milder form of pyruvate carboxylase deficiency, sometimes called type C, has also been described. This type is characterized by slightly increased levels of lactic acid in the blood and minimal signs and symptoms affecting the nervous system.","Curated_Disease_Description_Source__c":"GARD:0007512","GARD_Synonym__c":"ataxia with lactic acidosis ii; ataxia with lactic acidosis type 2; ataxia with lactic acidosis type ii; deficiency of pyruvate carboxylase; deficiency of pyruvic carboxylase; leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency; leigh syndrome due to pc deficiency; leigh syndrome due to pyruvate carboxylase deficiency; pc - pyruvate carboxylase deficiency; pc deficiency; pyruvate carboxylase deficiency disease","Name":"Pyruvate carboxylase deficiency","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3008"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3008"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/PC"},{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/LACTIC"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0034341"},{"Type__c":"GTR","Curie__c":"MEDGEN:C2931141"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK6852","Source__c":"Gene Review","Xref__c":"NBK6852"},{"URL__c":"https://www.orpha.net/en/disease/detail/3008","Source__c":"C0034341; MONDO:0009949; ORPHA:3008","Xref__c":"ORPHA:3008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3651","Source__c":"MONDO:0009949","Xref__c":"DOID:3651"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=87694001","Source__c":"C0034341; MONDO:0009949","Xref__c":"87694001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=18801","Source__c":"C0034341","Xref__c":"MEDGEN:18801"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015324","Source__c":"C0034341; MONDO:0009949","Xref__c":"D015324"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0034341","Source__c":"C0034341","Xref__c":"C0034341"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85040","Source__c":"C0034341; MONDO:0009949","Xref__c":"C85040"},{"URL__c":"https://www.omim.org/entry/266150","Source__c":"C0034341; MONDO:0009949; ORPHA:3008","Xref__c":"OMIM:266150"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009949","Source__c":"GARD:0007512","Xref__c":"MONDO:0009949"},{"URL__c":"https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency","Source__c":"GARD:0007512","Xref__c":"https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased levels of citrulline in cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500246","HPO_Synonym__c":"High citrulline levels in cerebrospinal fluid","HPO_Name__c":"Increased CSF citrulline concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003429","HPO_Name__c":"CNS hypomyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of proline in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008358","HPO_Synonym__c":"Prolinemia","HPO_Name__c":"Hyperprolinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500231","HPO_Synonym__c":"Abnormal pyruvate-family amino acid levels in cerebrospinal fluid","HPO_Name__c":"Abnormal CSF pyruvate family amino acid concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased levels of glutamic acid in cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500200","HPO_Synonym__c":"High glutamic acid levels in cerebrospinal fluid","HPO_Name__c":"Increased CSF glutamate concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032653","HPO_Name__c":"Elevated lactate:pyruvate ratio","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delayed myelination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012448","HPO_Name__c":"Delayed myelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally decreased levels of glutamine in cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500198","HPO_Synonym__c":"Low glutamine levels in cerebrospinal fluid","HPO_Name__c":"Decreased CSF glutamine concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002465","HPO_Synonym__c":"Poor speech","HPO_Name__c":"Poor speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007109","HPO_Name__c":"Periventricular cysts","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased amount of taurine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500181","HPO_Synonym__c":"Elevated serum taurine levels; Increased circulating taurine levels in the blood","HPO_Name__c":"Hypertaurinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012708","HPO_Synonym__c":"MR Spectroscopy: N-acetylaspartate low in brain; Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy","HPO_Name__c":"Reduced brain N-acetyl aspartate level by MRS","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100023","HPO_Name__c":"Recurrent hand flapping","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025336","HPO_Name__c":"Delayed ability to sit","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030051","HPO_Synonym__c":"Tiptoe gait; Toe walking; Walking on tiptoes","HPO_Name__c":"Tip-toe gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of pyruvate in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003542","HPO_Synonym__c":"Increased serum pyruvate; Increased serum pyruvic acid","HPO_Name__c":"Increased circulating pyruvate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003128","HPO_Synonym__c":"Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis","HPO_Name__c":"Lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Focal proliferation of glial cells in the basal ganglia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006999","HPO_Synonym__c":"Gliosis in the basal ganglia","HPO_Name__c":"Basal ganglia gliosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of citrulline in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011966","HPO_Name__c":"Elevated plasma citrulline","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of desire to eat (loss of appetite).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002039","HPO_Synonym__c":"Anorexia; Deliberately not eating; Obsessive dieting; Refusing to eat","HPO_Name__c":"Anorexia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of lactate in the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002490","HPO_Synonym__c":"Hyperlactatorachia; Increased cerebrospinal fluid lactate; Increased CSF lactic acid","HPO_Name__c":"Increased CSF lactate","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410175","HPO_Synonym__c":"Elevated circulating ketone body concentration; Increased level of ketone bodies in blood; Ketonemia","HPO_Name__c":"Hyperketonemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of lysine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002161","HPO_Synonym__c":"Elevated blood lysine","HPO_Name__c":"Hyperlysinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Behavior that consists of repetitive acts, characterized by the feeling that one \\\"has to\\\" perform them, while being aware that these acts are not in line with one's overall goal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000722","HPO_Synonym__c":"Obsessive compulsive behavior; Obsessive compulsive disorder; Obsessive-compulsive behavior; Obsessive-compulsive disorder; OCD","HPO_Name__c":"Compulsive behaviors","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of glutamate in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500149","HPO_Synonym__c":"High blood glutamate levels; Increased blood glutamate concentration; Increased level of L-glutamic acid in blood","HPO_Name__c":"Hyperglutamatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infantile spasms represent a subset of \\\"epileptic spasms\\\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012469","HPO_Name__c":"Infantile spasms","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025160","HPO_Name__c":"Abnormal temper tantrums","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011169","HPO_Synonym__c":"Generalised clonic seizure; Generalised onset clonic seizure; Generalised-onset clonic seizure; Generalized clonic seizures; Generalized onset clonic seizure; Generalized-onset clonic seizure","HPO_Name__c":"Generalized clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000741","HPO_Synonym__c":"Lack of feeling, emotion, interest; Lack of feeling, emotion, interest, motivation, initiation; State of indifference","HPO_Name__c":"Apathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of ammonia in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001987","HPO_Synonym__c":"High blood ammonia levels","HPO_Name__c":"Hyperammonemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012706","HPO_Name__c":"Elevated brain choline level by MRS","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030890","HPO_Synonym__c":"White matter hyperintensity","HPO_Name__c":"Hyperintensity of cerebral white matter on MRI","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of atrophy (wasting) of the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012762","HPO_Name__c":"Cerebral white matter atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Very rapid breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002789","HPO_Synonym__c":"Increased respiratory rate or depth of breathing; Polypnea","HPO_Name__c":"Tachypnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the rhythm or depth of breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002793","HPO_Synonym__c":"Abnormal pattern of respiration; Abnormal respiratory patterns; Unusual breathing patterns","HPO_Name__c":"Abnormal pattern of respiration","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012707","HPO_Name__c":"Elevated brain lactate level by MRS","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hyperbilirubinemia with neonatal onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003265","HPO_Synonym__c":"High blood bilirubin levels in neonate; Hyperbilirubinemia, neonatal","HPO_Name__c":"Neonatal hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002151","HPO_Synonym__c":"Increased blood lactate; Increased serum lactate","HPO_Name__c":"Increased circulating lactate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of alanine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003348","HPO_Synonym__c":"Increased blood alanine; Increased serum alanine","HPO_Name__c":"Hyperalaninemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001259","HPO_Synonym__c":"Coma; Persistent vegetative state; Stupor; Unconsciousness","HPO_Name__c":"Coma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003074","HPO_Synonym__c":"High blood glucose; High blood sugar","HPO_Name__c":"Hyperglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased amount of glutamine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500147","HPO_Synonym__c":"Decreased blood glutamine concentration; Low blood glutamine level","HPO_Name__c":"Hypoglutaminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced frequency or duration of eye contact.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000817","HPO_Synonym__c":"Poor eye contact","HPO_Name__c":"Reduced eye contact","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of abnormally strong desire for sleep during the daytime.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001262","HPO_Synonym__c":"Excessive daytime sleepiness; More than typical sleepiness during day","HPO_Name__c":"Excessive daytime somnolence","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002416","HPO_Synonym__c":"Subependymal germinolytic cyst; Subependymal pseudocyst","HPO_Name__c":"Subependymal cysts","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100660","HPO_Synonym__c":"Disorder of involuntary muscle movements; Dyskinesis","HPO_Name__c":"Dyskinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012644","HPO_Name__c":"Increased caudate lactate level","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of lactic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003648","HPO_Synonym__c":"High urine lactic acid levels; Increased urine lactate","HPO_Name__c":"Lacticaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Focal proliferation of glial cells in the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012698","HPO_Name__c":"Cerebellar gliosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003228","HPO_Synonym__c":"High blood sodium levels","HPO_Name__c":"Hypernatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased levels of alanine in cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500233","HPO_Synonym__c":"High alanine levels in cerebrospinal fluid","HPO_Name__c":"Increased CSF alanine concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3008","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["ataxia with lactic acidosis ii"," ataxia with lactic acidosis type 2"," ataxia with lactic acidosis type ii"," deficiency of pyruvate carboxylase"," deficiency of pyruvic carboxylase"," leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency"," leigh syndrome due to pc deficiency"," leigh syndrome due to pyruvate carboxylase deficiency"," pc - pyruvate carboxylase deficiency"," pc deficiency"," pyruvate carboxylase deficiency disease"]}