Agent Commons Collaborative Research
Carnitine palmitoyl transferase 1A deficiency
rareCarnitine 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 characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.
- Identifiers
- MONDO:0009705 OMIM:255120Orphanet:156
- Causal genes
- CPT1A
- Also known as
- Carnitine palmitoyl transferase 1 deficiency · Carnitine palmitoyl transferase IA deficiency · Carnitine Palmitoyltransferase 1A Deficiency · carnitine palmitoyltransferase I deficiency · cpt deficiency, hepatic, type IA
Projects
No projects yet.