Carnitine Palmitoyltransferase Ii Deficiency, Infantile (CPT2DI)

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OMIM 57 600649 Disease Ontology 12 DOID:0060235 MeSH 44 C535589 D008661 NCIt 50 C114766 Orphanet 59 ORPHA157 ORPHA228305 ICD10 via Orphanet 34 E71.3

MESH via Orphanet 45 C535589 UMLS via Orphanet 74 C0342790 C1833511 MedGen 42 C1833511 KEGG 37 H01982 SNOMED-CT via HPO 69 204962002 82525005 258211005 236423003 42399005 128613002 246545002 313307000 84757009 91175000 214264003 371632003 26544005 59927004 57809008 85898001 8186001 195021004 399020009 95281009 237630007 271327008 302866003 9360008 249497008 300359004 422400008 16932000 80515008 45170000 17944005 166603001 166643006 75183008 129565002 68962001 87317003 102594003 44808001 698247007 more UMLS 73 C0342790 C1833511 C1833508 C1833518 more

NIH Rare Diseases : ⁵³ Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The neonatal and infantile forms are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia (extremely low levels of ketones (substances produced when fat cells break down in the blood) and low blood sugar), cardiomyopathy, seizures, and early death. The myopathic form is characterized by exercise-induced muscle pain and weakness and occasional myoglobinuria (rust-colored urine indicating breakdown of muscle tissue).Mutations in the CPT2 gene cause CPT2 deficiency. It is inherited in an autosomal recessive pattern. Treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet.  

MalaCards based summary : Carnitine Palmitoyltransferase Ii Deficiency, Infantile, also known as carnitine palmitoyltransferase ii deficiency, is related to carnitine-acylcarnitine translocase deficiency and multiple acyl-coa dehydrogenase deficiency, and has symptoms including seizures, vomiting and respiratory distress. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency, Infantile is CPT2 (Carnitine Palmitoyltransferase 2), and among its related pathways/superpathways are Fatty acid degradation and Fatty acid metabolism. Affiliated tissues include liver, heart and kidney, and related phenotypes are seizures and muscle weakness

Disease Ontology : ¹² A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.

Genetics Home Reference : ²⁵ Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.

OMIM : ⁵⁷ Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The infantile form usually presents between 6 and 24 months of age with recurrent attacks of hypoketotic hypoglycemia causing loss of consciousness and seizures, liver failure, and transient hepatomegaly. Some children also have heart involvement with cardiomyopathy and arrhythmia. Episodes are triggered by infections, fever, or fasting. Laboratory studies usually indicate hyperammonemia, metabolic acidosis, and hypoketotic hypoglycemia with elevated levels of creatine kinase (summary by Longo et al., 2006). See also the lethal neonatal (608836) and adult-onset (255110) forms of the disorder, which are also caused by mutation in the CPT2 gene. (600649)

UniProtKB/Swiss-Prot : ⁷⁵ Carnitine palmitoyltransferase 2 deficiency, infantile: An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy.

Wikipedia : ⁷⁶ Carnitine palmitoyltransferase II deficiency (CPT-II, CPT2) is an autosomal recessively inherited... more...

GeneReviews: NBK1253

Clinical features from OMIM:

600649

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