Carnitine O-PalmitoyltransferaseMetabolism, Inborn Errors代谢缺陷, 先天性Congenital deficiency of carnitine palmitoyltransferase (CPT) II has been known for at least 30 years now, and its phenotypic variability remains fascinating. Three distinct clinical entities have been described, the adult, the ...
肉碱棕榈酰基转移酶II缺乏症的英文名字是Carnitine Palmitoyltransferase II Deficiency。基因解码表明:佳学基因通过基因解码发现:肉碱棕榈酰基转移酶II缺乏症是由基因突变引起的。这种疾病是由于基因CPT2的突变导致肉碱棕榈酰基转移酶II的功能缺陷,从而影响脂肪酸的氧化代谢。这种基因突变可以是遗传的,也可以是新生突变。
Carnitinepalmitoyltransferase 2 deficiency (CPT2 deficiency, OMIM # 608836) is a disorder of thefatty acid uptakeandmitochondrial transportsystem, also known as thecarnitinecycle or thecarnitine shuttle. The carnitine shuttle involves (1) cellular uptake of the long-chain fatty acids by fatty a...
Deficiencies of carnitine palmitoyltransferases (CPT) 1 and 2 are inborn errors of carnitine metabolism. CPT1 and CPT2 are integral components of the “carnitine shuttle” transporting long-chain fatty acids (LCFA) into mitochondria for fatty acid β-oxidation (FABO). The deficiency of either CPT...
Carnitine palmitoyltransferase II deficiency: Diagnosis by molecular analysis of blood Four missense mutations have been reported to be associated with the typical, adult form of carnitine palmitoyltransferase II (CPT II) deficiency: Three am... P Kaufmann,S Dimauro - 《Molecular & Cellular Biochemistr...
Disorders such as glutaric aciduria type II or carnitine palmitoyltransferase II (CPT-II) deficiency can present with dysmorphic features, such as mid-facial hypoplasia and frontal bossing (Zellwegerlike phenotype) and congenital abnormalities of the abdominal wall. ...
Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II . N Engl J Med . 1991; 325 : 1862–1864.Hug G, Bove KE, Soukup S. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II . N Engl J Med ... G Hug,KE Bove,S Soukup - 《N Engl J Med》 被引量...
carnitine palmitoyltransferase; CPT2 deficiency prenatal diagnosis; hypoketotic hypoglycemia; fatty acid oxidation Abstract Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common autosomal recessive inherited disease of the mitochondrial long-chain fatty acid (LCFA) β-oxidation, may result in ...
CPT IA Deficiency Carnitine palmitoyltransferase (CPT) is a protein located in theMOMwhere, in collaboration with acyl-CoA synthetase andCACT, it conjugates long-chain fatty acyl-CoA tocarnitinein order to transport long-chain fatty acids into themitochondrial matrixwhere fatty acidbeta oxidationt...
carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine Ecocardiografia Digitalizzata Infarto Miocardico Carnitine Octanoyltransferase Carnitine Palmitoyl Transferase 1 Carnitine Palmitoyl Transferase 2 carnitine palmitoyltransferase Carnitine Palmityl Transferase Deficiency Carnitine transporte...