Carnitine palmitoyltransferase I deficiency (Q91979): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A deficiência de carnitina palmitoiltransferase 1A é um erro inato do metabolismo que afeta a oxidação mitocondrial de ácidos graxos de cadeia longa no fígado e rins, sendo caracterizada por ataques recorrentes de hipoglicemia cetótica induzida por jejum e risco de insuficiência hepática. | |||
| description / en | description / en | ||
Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterised by recurrent attacks of fasting-induced hypoketotic hypoglycaemia and risk of liver failure. | |||
Revision as of 07:08, 16 August 2026
Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterised by recurrent attacks of fasting-induced hypoketotic hypoglycaemia and risk of liver failure.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_500237301 |
||
| English | Carnitine palmitoyltransferase I deficiency |
Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterised by recurrent attacks of fasting-induced hypoketotic hypoglycaemia and risk of liver failure. |
