carnitine palmitoyltransferase I deficiency (DOID:0090129)
Alliance: disease page
Synonyms: carnitine palmitoyl transferase 1A deficiency; carnitine palmitoyl transferase IA deficiency; CPT1A deficiency; CPT I deficiency; hepatic carnitine palmitoyl transferase 1 deficiency; hepatic carnitine palmitoyl transferase I deficiency; hepatic CPT deficiency type I; L-CPT1 deficiency
Alt IDs: OMIM:255120, ICD10CM:E71.3, ORDO:156
Definition: A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13.