{"Name":"Carnitine palmitoyl transferase 1A deficiency","DiseaseID__c":"GARD:0001120","id":1120,"encodedName":"carnitine-palmitoyl-transferase-1a-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Carnitine palmitoyl transferase 1A deficiency","Xref_IDs__c":"238001003; C1829703; C535588; C98871; DOID:0090129; MEDGEN:316820; MONDO:0009705; OMIM:255120; ORPHA:156","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009705","Disease_Description__c":"Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.","GARD_Name__c":"Carnitine palmitoyl transferase 1A deficiency","GARD_Synonym__c":"carnitine palmitoyl transferase ia deficiency; carnitine palmitoyltransferase 1a deficiency; carnitine palmitoyltransferase deficiency type 1; carnitine palmitoyltransferase i deficiency; carnitine palmitoyltransferase ia deficiency; carnitine palmitoyltransferase type i deficiency; cpt deficiency, hepatic, type i; cpt deficiency, hepatic, type ia; cpt i deficiency; cpt1 - carnitine palmitoyltransferase i deficiency; cpt1a deficiency; cpt1a disorder of carnitine cycle and carnitine transport; cpti - carnitine palmitoyltransferase deficiency type i; disorder of carnitine cycle and carnitine transport caused by mutation in cpt1a; hepatic carnitine palmitoyl transferase 1 deficiency; hepatic carnitine palmitoyl transferase i deficiency; hepatic cpt deficiency type i; l-cpt1 deficiency; l-cpti deficiency; liver form of carnitine palmitoyltransferase deficiency","Curated_Disease_Description_Source__c":"GARD:0001120","Curated_Disease_Description__c":"Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy.  The signs and symptoms of CPT I deficiency are often brought on by episodes of increased energy demands in the body such as illness or periods of fasting. During these times, affected individuals usually develop low levels of glucose in the blood and a low level of ketones, which are normally produced when fats are broken down to be used for energy. Together, these signs are called hypoketotic hypoglycemia. This may cause individuals to experience confusion, seizures, or a lack of energy (lethargy). People with CPT I deficiency can also develop an enlarged liver (hepatomegaly) that is not able to remove toxins from the blood efficiently. These toxins build up and can affect brain function (hepatic encephalopathy). As long as no brain damage occurs during these episodes of hepatic encephalopathy, individuals with CPT I deficiency often have normal development. Health can decline quickly in people with CPT I deficiency. Affected individuals are encouraged to avoid prolonged fasting to prevent serious health problems. Individuals with CPT I deficiency are at risk for nervous system damage, liver failure, coma, and sudden death. These problems can begin any time between infancy to adulthood, though some individuals experience no health problems at all. CPT I deficiency is often detected shortly after birth by newborn screening, which identifies abnormal levels of certain compounds in the blood. People with CPT I deficiency have high levels of a compound called carnitine. Cells use carnitine, a natural substance that is acquired mostly through the diet, to process fats and produce energy.","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:156","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009705","ORPHANET_ID__c":"ORPHA:156","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de carnitina palmitoiltransferasa 1a","Spanish_Description_Source__c":"ORPHA:156","Spanish_Description__c":"El déficit de carnitina palmitoiltransferasa 1ª (CPT-1A) es un error congénito del metabolismo que afecta a la oxidación mitocondrial de los ácidos grasos de cadena larga (AGCL) en hígado y riñones, y que se caracteriza por ataques recurrentes de hipoglucemia hipocetósica por ayuno y riesgo de insuficiencia hepática.","Spanish_Disease_Name__c":"deficiencia de carnitina palmitoiltransferasa 1a","Spanish_GARD_Synonym__c":"deficiencia de carnitina palmitoiltransferasa 1 hepática; deficiencia de carnitina palmitoiltransferasa i hepática; deficiencia de carnitina palmitoiltransferasa ia; deficiencia de cpt-1a; deficiencia de l-cpt1; deficiencia de l-cpti","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":"Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy.  The signs and symptoms of CPT I deficiency are often brought on by episodes of increased energy demands in the body such as illness or periods of fasting. During these times, affected individuals usually develop low levels of glucose in the blood and a low level of ketones, which are normally produced when fats are broken down to be used for energy. Together, these signs are called hypoketotic hypoglycemia. This may cause individuals to experience confusion, seizures, or a lack of energy (lethargy). People with CPT I deficiency can also develop an enlarged liver (hepatomegaly) that is not able to remove toxins from the blood efficiently. These toxins build up and can affect brain function (hepatic encephalopathy). As long as no brain damage occurs during these episodes of hepatic encephalopathy, individuals with CPT I deficiency often have normal development. Health can decline quickly in people with CPT I deficiency. Affected individuals are encouraged to avoid prolonged fasting to prevent serious health problems. Individuals with CPT I deficiency are at risk for nervous system damage, liver failure, coma, and sudden death. These problems can begin any time between infancy to adulthood, though some individuals experience no health problems at all. CPT I deficiency is often detected shortly after birth by newborn screening, which identifies abnormal levels of certain compounds in the blood. People with CPT I deficiency have high levels of a compound called carnitine. Cells use carnitine, a natural substance that is acquired mostly through the diet, to process fats and produce energy.","Curated_Disease_Description_Source__c":"GARD:0001120","GARD_Synonym__c":"carnitine palmitoyl transferase ia deficiency; carnitine palmitoyltransferase 1a deficiency; carnitine palmitoyltransferase deficiency type 1; carnitine palmitoyltransferase i deficiency; carnitine palmitoyltransferase ia deficiency; carnitine palmitoyltransferase type i deficiency; cpt deficiency, hepatic, type i; cpt deficiency, hepatic, type ia; cpt i deficiency; cpt1 - carnitine palmitoyltransferase i deficiency; cpt1a deficiency; cpt1a disorder of carnitine cycle and carnitine transport; cpti - carnitine palmitoyltransferase deficiency type i; disorder of carnitine cycle and carnitine transport caused by mutation in cpt1a; hepatic carnitine palmitoyl transferase 1 deficiency; hepatic carnitine palmitoyl transferase i deficiency; hepatic cpt deficiency type i; l-cpt1 deficiency; l-cpti deficiency; liver form of carnitine palmitoyltransferase deficiency","Name":"Carnitine palmitoyl transferase 1A deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FOD (Fatty Oxidation Disorder) Family Support Group","Website__c":"https://fodsupport.org/"},{"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"},{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.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":"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":"Neonatal","Provided_By__c":"ORPHA:156"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:156"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CPT-Ia"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1829703"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001120","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1527","Source__c":"Gene Review","Xref__c":"NBK1527"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238001003","Source__c":"C1829703; MONDO:0009705","Xref__c":"238001003"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98871","Source__c":"C1829703; MONDO:0009705","Xref__c":"C98871"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090129","Source__c":"MONDO:0009705","Xref__c":"DOID:0090129"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1829703","Source__c":"C1829703","Xref__c":"C1829703"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=316820","Source__c":"C1829703","Xref__c":"MEDGEN:316820"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535588","Source__c":"MONDO:0009705","Xref__c":"C535588"},{"URL__c":"https://www.omim.org/entry/255120","Source__c":"C1829703; MONDO:0009705; ORPHA:156","Xref__c":"OMIM:255120"},{"URL__c":"https://www.orpha.net/en/disease/detail/156","Source__c":"C1829703; MONDO:0009705; ORPHA:156","Xref__c":"ORPHA:156"},{"URL__c":"https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency","Source__c":"GARD:0001120","Xref__c":"https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009705","Source__c":"GARD:0001120","Xref__c":"MONDO:0009705"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CPT1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cpt1a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Frequent (30-79%)","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:156","HPO_Frequency__c":"Frequent (30-79%)","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:156","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008279","HPO_Name__c":"Transient hyperlipidemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Very frequent (80-99%)","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:156","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001947","HPO_Synonym__c":"Accumulation of acid in body due to kidney problem","HPO_Name__c":"Renal tubular acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of awareness of oneself or one's surroundings, involving (i) a loss of normal motor control is evident as flaccidity or stiffness, either of which can be accompanied by jerking movements, and postural control is lost so that patients fall if they are in an upright position; (ii) normal responsiveness is lost; and (iii) the patient experiences amnesia for the event. Loss of consciousness my be transitory (e.g., syncope) or prolonged.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007185","HPO_Synonym__c":"Fainting; Loss of consciousness; Passing out","HPO_Name__c":"Loss of consciousness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001645","HPO_Synonym__c":"Premature sudden cardiac death; Sudden cardiac death","HPO_Name__c":"Sudden cardiac death","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:156","HPO_Frequency__c":"Frequent (30-79%)","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:156","HPO_Frequency__c":"Very frequent (80-99%)","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:156","HPO_Frequency__c":"Very frequent (80-99%)","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:156","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["carnitine palmitoyl transferase ia deficiency"," carnitine palmitoyltransferase 1a deficiency"," carnitine palmitoyltransferase deficiency type 1"," carnitine palmitoyltransferase i deficiency"," carnitine palmitoyltransferase ia deficiency"," carnitine palmitoyltransferase type i deficiency"," cpt deficiency, hepatic, type i"," cpt deficiency, hepatic, type ia"," cpt i deficiency"," cpt1 - carnitine palmitoyltransferase i deficiency"," cpt1a deficiency"," cpt1a disorder of carnitine cycle and carnitine transport"," cpti - carnitine palmitoyltransferase deficiency type i"," disorder of carnitine cycle and carnitine transport caused by mutation in cpt1a"," hepatic carnitine palmitoyl transferase 1 deficiency"," hepatic carnitine palmitoyl transferase i deficiency"," hepatic cpt deficiency type i"," l-cpt1 deficiency"," l-cpti deficiency"," liver form of carnitine palmitoyltransferase deficiency"]}