Carnitine palmitoyltransferase II deficiency
id:
carnitine-palmitoyltransferase-ii-deficiency-165-11234902
title:
Carnitine palmitoyltransferase II deficiency
text:
Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three clinical forms: lethal neonatal, severe infantile hepatocardiomuscular and myopathic. First characterized in 1973 by DiMauro and DiMauro the adult myopathic
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency
date created:
2005-08-24T04:55:33Z
date modified:
2024-08-29T10:19:40Z
main entity:
{"identifier":"Q2033861","url":"https://www.wikidata.org/entity/Q2033861"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/8/8d/Carnitine_structure.png","width":436,"height":150}
fields total:
13
integrity:
16