Disease - Carnitine palmitoyltransferase 1A deficiency
- DefinitionRare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood.
- AcronymCPT1AD
- Alternative names
- Cross references
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Browse 1 entry- Carnitine O-palmitoyltransferase 1, liver isoform · Gene: CPT1A (CPT1) · Homo sapiens (Human) · EC:2.3.1.21 · 773 amino acids · Evidence at protein level · Annotation score: 5/5