Carnitine palmitoyltransferase I deficiency (Q91979)
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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 |
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| 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. |
