{"Name":"Carnitine palmitoyltransferase II deficiency","DiseaseID__c":"GARD:0001121","id":1121,"encodedName":"carnitine-palmitoyltransferase-ii-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Carnitine palmitoyltransferase II deficiency","Xref_IDs__c":"238002005; C0342790; C114766; C535589; DOID:0060235; MEDGEN:137978; MONDO:0015515; NBK1253; ORPHA:157","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015515","Disease_Description__c":"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).","GARD_Name__c":"Carnitine palmitoyltransferase II deficiency","GARD_Synonym__c":"carnitine palmitoyltransferase 2 deficiency; carnitine palmitoyltransferase deficiency type 2; cpt ii deficiency; cpt-ii; cpt2; cpt2 - carnitine palmitoyltransferase ii deficiency; cptii; cptii - carnitine palmitoyltransferase deficiency type ii; infantile carnitine palmitoyltransferase ii deficiency; late-onset carnitine palmitoyltransferase ii deficiency; lethal neonatal carnitine palmitoyltransferase ii deficiency; muscle form of carnitine palmitoyltransferase deficiency","Curated_Disease_Description_Source__c":"GARD:0001121","Curated_Disease_Description__c":"Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods of fasting. There are three main types of CPT II deficiency that vary in severity and the age at which symptoms first appear: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The lethal neonatal form of CPT II deficiency becomes apparent soon after birth. Infants with this form of the disorder develop respiratory failure, liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heartbeat (arrhythmia). In many cases, the brain and kidneys are also structurally abnormal. Affected individuals have low levels of glucose in the blood and low levels of ketones, which are produced during the breakdown of fats and used for energy. Together, these signs are called hypoketotic hypoglycemia. If affected individuals fast for long periods of time, they can experience seizures or coma. Because of these serious health complications, infants with the lethal neonatal form of CPT II deficiency usually live for only a few days to a few months. The severe infantile hepatocardiomuscular form of CPT II deficiency affects the liver, heart, and muscles. Signs and symptoms usually appear within the first year of life. This form involves recurring episodes of hypoketotic hypoglycemia, seizures, liver dysfunction, cardiomyopathy, arrhythmia, and muscle weakness (myopathy) in the arms and legs. Signs and symptoms of this form of CPT II deficiency can be triggered by fasting or by illnesses such as viral infections. Individuals with the severe infantile hepatocardiomuscular form of CPT II deficiency are at risk for liver failure, nervous system damage, coma, and sudden death. The myopathic form is the least severe type of CPT II deficiency. This form is characterized by recurrent episodes of muscle pain (myalgia) and occasional weakness that is associated with the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin. This excess myoglobin may cause urine to be red or brown (myoglobinuria). Episodes of myalgia and rhabdomyolysis may be triggered by exercise, stress, exposure to extreme temperatures, infections, or fasting. The first episode of myalgia usually occurs during childhood or adolescence. The severity and frequency of episodes varies among affected individuals. Most people with the myopathic form of CPT II deficiency have no signs or symptoms of the disorder between episodes. People with CPT II deficiency are often encouraged to avoid triggers such as long periods of fasting and intensive exercise to limit the occurrence of serious health problems. CPT II deficiency is often detected shortly after birth by newborn screening, which identifies abnormal levels of certain compounds in the blood. In individuals with CPT II deficiency, the blood levels of certain fats are elevated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:157","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015515","ORPHANET_ID__c":"ORPHA:157","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de carnitina palmitoiltransferasa ii","Spanish_Description_Source__c":"ORPHA:157","Spanish_Description__c":"El déficit de carnitina palmitoiltranferasa II (CPT II) es una enfermedad metabólica hereditaria que afecta a la oxidación mitocondrial de los ácidos grasos de cadena larga (LCFA). Se conocen tres formas del déficit de CPT II: forma miopática, forma infantil grave y forma neonatal (ver estos términos).","Spanish_Disease_Name__c":"deficiencia de carnitina palmitoiltransferasa ii","Spanish_GARD_Synonym__c":null,"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 II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods of fasting. There are three main types of CPT II deficiency that vary in severity and the age at which symptoms first appear: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The lethal neonatal form of CPT II deficiency becomes apparent soon after birth. Infants with this form of the disorder develop respiratory failure, liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heartbeat (arrhythmia). In many cases, the brain and kidneys are also structurally abnormal. Affected individuals have low levels of glucose in the blood and low levels of ketones, which are produced during the breakdown of fats and used for energy. Together, these signs are called hypoketotic hypoglycemia. If affected individuals fast for long periods of time, they can experience seizures or coma. Because of these serious health complications, infants with the lethal neonatal form of CPT II deficiency usually live for only a few days to a few months. The severe infantile hepatocardiomuscular form of CPT II deficiency affects the liver, heart, and muscles. Signs and symptoms usually appear within the first year of life. This form involves recurring episodes of hypoketotic hypoglycemia, seizures, liver dysfunction, cardiomyopathy, arrhythmia, and muscle weakness (myopathy) in the arms and legs. Signs and symptoms of this form of CPT II deficiency can be triggered by fasting or by illnesses such as viral infections. Individuals with the severe infantile hepatocardiomuscular form of CPT II deficiency are at risk for liver failure, nervous system damage, coma, and sudden death. The myopathic form is the least severe type of CPT II deficiency. This form is characterized by recurrent episodes of muscle pain (myalgia) and occasional weakness that is associated with the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin. This excess myoglobin may cause urine to be red or brown (myoglobinuria). Episodes of myalgia and rhabdomyolysis may be triggered by exercise, stress, exposure to extreme temperatures, infections, or fasting. The first episode of myalgia usually occurs during childhood or adolescence. The severity and frequency of episodes varies among affected individuals. Most people with the myopathic form of CPT II deficiency have no signs or symptoms of the disorder between episodes. People with CPT II deficiency are often encouraged to avoid triggers such as long periods of fasting and intensive exercise to limit the occurrence of serious health problems. CPT II deficiency is often detected shortly after birth by newborn screening, which identifies abnormal levels of certain compounds in the blood. In individuals with CPT II deficiency, the blood levels of certain fats are elevated.","Curated_Disease_Description_Source__c":"GARD:0001121","GARD_Synonym__c":"carnitine palmitoyltransferase 2 deficiency; carnitine palmitoyltransferase deficiency type 2; cpt ii deficiency; cpt-ii; cpt2; cpt2 - carnitine palmitoyltransferase ii deficiency; cptii; cptii - carnitine palmitoyltransferase deficiency type ii; infantile carnitine palmitoyltransferase ii deficiency; late-onset carnitine palmitoyltransferase ii deficiency; lethal neonatal carnitine palmitoyltransferase ii deficiency; muscle form of carnitine palmitoyltransferase deficiency","Name":"Carnitine palmitoyltransferase II deficiency","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"FOD (Fatty Oxidation Disorder) Family Support Group","Website__c":"https://fodsupport.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":"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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:157"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CPT-II"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0342790"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1253","Source__c":"Gene Review","Xref__c":"NBK1253"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C114766","Source__c":"C0342790; MONDO:0015515","Xref__c":"C114766"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342790","Source__c":"C0342790","Xref__c":"C0342790"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060235","Source__c":"MONDO:0015515","Xref__c":"DOID:0060235"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535589","Source__c":"MONDO:0015515","Xref__c":"C535589"},{"URL__c":"https://www.orpha.net/en/disease/detail/157","Source__c":"C0342790; MONDO:0015515; ORPHA:157","Xref__c":"ORPHA:157"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=137978","Source__c":"C0342790","Xref__c":"MEDGEN:137978"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238002005","Source__c":"C0342790; MONDO:0015515","Xref__c":"238002005"},{"URL__c":"https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-ii-deficiency","Source__c":"GARD:0001121","Xref__c":"https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-ii-deficiency"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015515","Source__c":"GARD:0001121","Xref__c":"MONDO:0015515"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles brought on by physical exertion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003710","HPO_Synonym__c":"Exercise-induced muscle cramping; Exercise-induced muscle cramps; Muscle cramps following exercise; Muscle cramps on exercise; Muscle cramps on exertion; Muscle cramps with exertion","HPO_Name__c":"Exercise-induced muscle cramps","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002269","HPO_Synonym__c":"Abnormal neuronal migration; Heterotopias/abnormal migration; Migrational brain disorder; Neuronal migration disorder","HPO_Name__c":"Abnormality of neuronal migration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003774","HPO_Synonym__c":"Chronic renal failure; End stage renal disease; End stage renal failure; End-stage renal disease; End-stage renal failure; Stage 5 chronic kidney disease","HPO_Name__c":"Stage 5 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000800","HPO_Synonym__c":"Bilateral cystic dysplasia; Renal cystic dysplasia; Renal dysplasia, cystic","HPO_Name__c":"Cystic renal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced carnitine O-palmitoyltransferase (CPT II; EC 2.3.1.21) activity or level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. (CPT II activity can be measured in tissues including fibroblasts, lymphoblasts, and skeletal muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012380","HPO_Name__c":"Reduced tissue carnitine O-palmitoyltransferase 2 activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001320","HPO_Synonym__c":"Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis","HPO_Name__c":"Cerebellar vermis hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001985","HPO_Synonym__c":"Hypoglycemia, hypoketotic","HPO_Name__c":"Hypoketotic hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The occurrence of an unusually high amount of muscle pain following exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003738","HPO_Synonym__c":"Exercise-induced muscle pain; Muscle pain on exercise; Muscle pain with exercise; Muscle pain, exercise-induced","HPO_Name__c":"Exercise-induced myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","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:157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of free (unbound) carnitine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008315","HPO_Name__c":"Decreased plasma free carnitine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003201","HPO_Synonym__c":"Breakdown of skeletal muscle","HPO_Name__c":"Rhabdomyolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001970","HPO_Synonym__c":"Interstitial nephritis; Nephritis, Tubulointerstitial","HPO_Name__c":"Tubulointerstitial nephritis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"History of repeated intermittent involuntary muscle contractions that were painful.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011964","HPO_Name__c":"Intermittent painful muscle spasms","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of total carnitine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011936","HPO_Synonym__c":"Decreased plasma total carnitine","HPO_Name__c":"Decreased plasma total carnitine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003449","HPO_Name__c":"Cold-induced muscle cramps","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","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:157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated lipid concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003077","HPO_Synonym__c":"Elevated lipids in blood","HPO_Name__c":"Hyperlipidemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of acylcarnitine in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045045","HPO_Synonym__c":"Elevated plasma acylcarnitine levels","HPO_Name__c":"Elevated circulating acylcarnitine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal red-brown color of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040320","HPO_Synonym__c":"red brown urine","HPO_Name__c":"Red-brown urine","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Occasional (5-29%)","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:157","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:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002126","HPO_Synonym__c":"More grooves in brain","HPO_Name__c":"Polymicrogyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of multiple cysts in both kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000113","HPO_Synonym__c":"Polycystic kidneys","HPO_Name__c":"Polycystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008682","HPO_Synonym__c":"Acute tubular necrosis; Renal tubular necrosis","HPO_Name__c":"Renal tubular epithelial necrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001302","HPO_Synonym__c":"Cerebral pachygyria; Fewer and broader ridges in brain; Macrogyria","HPO_Name__c":"Pachygyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Respiratory difficulty as newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002643","HPO_Synonym__c":"Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal","HPO_Name__c":"Neonatal respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormality of the basal ganglia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002134","HPO_Synonym__c":"Abnormality of the basal ganglia; Anomaly of the basal ganglia; Basal ganglia disease","HPO_Name__c":"Abnormal basal ganglia morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An intermittent form of abdominal pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002574","HPO_Name__c":"Episodic abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","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:157","HPO_Frequency__c":"Uncommon (<1-4%)","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:157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of abnormal calcium deposition in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006559","HPO_Synonym__c":"Liver calcifications","HPO_Name__c":"Hepatic calcification","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012443","HPO_Synonym__c":"Abnormal shape of brain; Abnormality of brain morphology; Abnormality of the brain","HPO_Name__c":"Abnormal brain morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of myoglobin in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002913","HPO_Name__c":"Myoglobinuria","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["carnitine palmitoyltransferase 2 deficiency"," carnitine palmitoyltransferase deficiency type 2"," cpt ii deficiency"," cpt-ii"," cpt2"," cpt2 - carnitine palmitoyltransferase ii deficiency"," cptii"," cptii - carnitine palmitoyltransferase deficiency type ii"," infantile carnitine palmitoyltransferase ii deficiency"," late-onset carnitine palmitoyltransferase ii deficiency"," lethal neonatal carnitine palmitoyltransferase ii deficiency"," muscle form of carnitine palmitoyltransferase deficiency"]}