carnitine palmitoyltransferase I deficiency

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, usually occurring after fasting or illness; onset is in infancy or early childhood.

Medical dictionary. 2011.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • 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 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,… …   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

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”