carnitine palmitoyltransferase II deficiency
- carnitine palmitoyltransferase II deficiency
- an autosomal recessive disorder caused by mutations in the CPT2 gene (locus: 1p32), which encodes carnitine palmitoyltransferase II; it occurs in 3 forms. The lethal neonatal and infantile forms are characterized by nonketotic hypoglycemia, cardiac and liver anomalies, and early death. The late-onset or adult-onset form is the most common and is marked by rhabdomyolysis following prolonged exercise, fasting, or febrile illness.
Medical dictionary.
2011.
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Carnitine palmitoyltransferase II deficiency — Classification and external resources Carnitine ICD 9 … Wikipedia
Carnitine palmitoyltransferase I deficiency — Infobox Disease Name = PAGENAME Caption = Carnitine DiseasesDB = 32535 ICD10 = ICD9 = ICD9|277.85 ICDO = OMIM = 255120 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 321 MeshName = MeshNumber = Carnitine palmitoyltransferase I deficiency is a … Wikipedia
carnitine palmitoyltransferase I deficiency — a rare autosomal recessive disorder caused by mutations in the CPT1A gene (locus: 11q13), which encodes carnitine palmitoyltransferase IA. It is characterized by severe episodes of hypoketotic hypoglycemia, hepatomegaly, and encephalopathy,… … Medical dictionary
Carnitine-acylcarnitine translocase deficiency — DiseaseDisorder infobox Name = Carnitine acylcarnitine translocase deficiency ICD10 = ICD9 = ICD9|272.8 Carnitine acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long… … Wikipedia
Carnitine palmitoyltransferase II — Carnitine palmitoyltransferase II, also known as CPT2, is a human gene.cite web | title = Entrez Gene: CPT2 carnitine palmitoyltransferase II| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=1376| accessdate … Wikipedia
Carnitine palmitoyltransferase I — carnitine palmitoyltransferase 1A (liver) Identifiers Symbol CPT1A Alt. symbols CPT1 Entrez 1374 … Wikipedia
carnitine palmitoyltransferase deficiency — car·ni·tine pal·mi·toyl·trans·fer·ase de·fi·cien·cy (kahrґnĭ tēn pahl″mĭ toil transґfər ās) metabolic disorders of long chain fatty acid oxidation caused by mutations in the genes encoding carnitine… … Medical dictionary
Deficit en carnitine palmitoyltransferase II — Déficit en carnitine palmitoyltransférase II Déficit en carnitine palmitoyltransférase II Autre nom {{{Autre nom}}} Référence MIM … Wikipédia en Français
Déficit En Carnitine Palmitoyltransférase II — Autre nom {{{Autre nom}}} Référence MIM … Wikipédia en Français
Déficit en carnitine palmitoyltransférase ii — Autre nom {{{Autre nom}}} Référence MIM … Wikipédia en Français
