{"Name":"Phosphoenolpyruvate carboxykinase (GTP) deficiency","DiseaseID__c":"GARD:0016613","id":16613,"encodedName":"phosphoenolpyruvate-carboxykinase-gtp-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Phosphoenolpyruvate carboxykinase (GTP) deficiency","Xref_IDs__c":"5335002; C0268194; C536654; C99015; MEDGEN:120618; MONDO:0017320; ORPHA:2880","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017320","Disease_Description__c":"A rare gluconeogenesis disorder that results from impairment in the enzyme phosphoenolpyruvate carboxykinase, and comprised of cytosolic and mitochondrial forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.","GARD_Name__c":"Phosphoenolpyruvate carboxykinase (GTP) deficiency","GARD_Synonym__c":"pepck - phosphoenolpyruvate carboxykinase deficiency; pepck deficiency; phosphoenolpyruvate carboxykinase deficiency","Curated_Disease_Description_Source__c":"ORPHA:2880","Curated_Disease_Description__c":"A rare gluconeogenesis disorder that results from impairment in the enzyme phosphoenolpyruvate carboxykinase, and comprised of cytosolic and mitochondrial forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. This disorder does not typically exist in isolated form.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2880","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017320","ORPHANET_ID__c":"ORPHA:2880","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de fosfoenolpiruvato carboxiquinasa","Spanish_Description_Source__c":"ORPHA:2880","Spanish_Description__c":"Es un trastorno poco frecuente de la gluconeogénesis por deficiencia enzimática de las formas citosólica o mitocondrial de la fosfoenolpiruvato carboxiquinasa. El inicio de los síntomas es neonatal o a los pocos meses del nacimiento, e incluye hipoglucemia asociada a episodios agudos de acidosis láctica grave, afectación neurológica progresiva, insuficiencia hepática grave, acidosis tubular renal y síndrome de Fanconi. Los pacientes también presentan daño multisistémico progresivo con fallo de medro, debilidad muscular e hipotonía, retraso del desarrollo con cris epilépticas, espasticidad, letargia, microcefalia y miocardiopatía. Hasta la fecha, no hay evidencia de la existencia de una forma aislada de este trastorno.","Spanish_Disease_Name__c":"deficiencia de fosfoenolpiruvato carboxiquinasa","Spanish_GARD_Synonym__c":"deficiencia de pepck","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":"A rare gluconeogenesis disorder that results from impairment in the enzyme phosphoenolpyruvate carboxykinase, and comprised of cytosolic and mitochondrial forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. This disorder does not typically exist in isolated form.","Curated_Disease_Description_Source__c":"ORPHA:2880","GARD_Synonym__c":"pepck - phosphoenolpyruvate carboxykinase deficiency; pepck deficiency; phosphoenolpyruvate carboxykinase deficiency","Name":"Phosphoenolpyruvate carboxykinase (GTP) deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2880"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2880"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=5335002","Source__c":"C0268194; MONDO:0017320","Xref__c":"5335002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536654","Source__c":"MONDO:0017320","Xref__c":"C536654"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268194","Source__c":"C0268194","Xref__c":"C0268194"},{"URL__c":"https://www.orpha.net/en/disease/detail/2880","Source__c":"C0268194; MONDO:0017320; ORPHA:2880","Xref__c":"ORPHA:2880"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99015","Source__c":"C0268194; MONDO:0017320","Xref__c":"C99015"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120618","Source__c":"C0268194","Xref__c":"MEDGEN:120618"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017320","Source__c":"GARD:0016613","Xref__c":"MONDO:0017320"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PCK2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PCK1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Mitochondrial inheritance","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Occasional (5-29%)","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:2880","HPO_Frequency__c":"Uncommon (<1-4%)","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:2880","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:2880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2880","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:2880","HPO_Frequency__c":"Frequent (30-79%)","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:2880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006846","HPO_Name__c":"Acute encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of fumaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034648","HPO_Synonym__c":"Elevated urine fumarate level","HPO_Name__c":"Elevated urine fumaric acid level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001988","HPO_Synonym__c":"hypoglycaemia, recurrent; hypoglycemia, recurrent; Hypoglycemic episodes; Recurrent hypoglycaemia; Recurrent hypoglycemic episodes; Recurrent low blood sugar levels","HPO_Name__c":"Recurrent hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally high concentration in the circulation of alanine aminotransferase (ALT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031964","HPO_Synonym__c":"Alanine aminotransferase increased; Elevated serum alanine aminotransferase; Elevated serum ALT; Elevated serum glutamic-pyruvic transaminase","HPO_Name__c":"Elevated circulating alanine aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of glutamine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003217","HPO_Synonym__c":"High plasma glutamine","HPO_Name__c":"Hyperglutaminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2880","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:2880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031956","HPO_Synonym__c":"Aspartate aminotransferase increased; Elevated serum aspartate aminotransferase; Elevated serum AST; Elevated serum glutamic oxaloacetic transaminase","HPO_Name__c":"Elevated circulating aspartate aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A greater than normal concentration of 2-oxoglutaric acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012402","HPO_Synonym__c":"Elevated urinary 2-oxoglutarate; Increased urine alpha-ketoglutarate concentration","HPO_Name__c":"Increased urine alpha-ketoglutarate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Frequent (30-79%)","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:2880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002173","HPO_Name__c":"Hypoglycemic seizures","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Coma induced by low blood sugar.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001325","HPO_Synonym__c":"Coma caused by low blood sugar; Coma, hypoglycemic; Hypoglycaemic coma; Hypoglycemic coma; Loss of consciousness due to hypoglycemia","HPO_Name__c":"Hypoglycemic coma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability of the liver to perform its functions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001410","HPO_Synonym__c":"Decreased liver function; Liver dysfunction","HPO_Name__c":"Decreased liver function","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal feeling of sleepiness or difficulty staying awake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002329","HPO_Synonym__c":"Abnormal drowsiness; Drowsiness; Sleepiness; Sleepy; Somnolence","HPO_Name__c":"Drowsiness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001998","HPO_Synonym__c":"Low blood sugar in newborn","HPO_Name__c":"Neonatal hypoglycemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["pepck - phosphoenolpyruvate carboxykinase deficiency"," pepck deficiency"," phosphoenolpyruvate carboxykinase deficiency"]}