Term Name:	carnitine palmitoyltransferase I deficiency
Synonyms:	carnitine palmitoyl transferase 1A deficiency, carnitine palmitoyl transferase IA deficiency, CPT I deficiency, CPT1A deficiency, hepatic carnitine palmitoyl transferase 1 deficiency, hepatic carnitine palmitoyl transferase I deficiency, hepatic CPT deficiency type I, L-CPT1 deficiency
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.
Ontology:	Human Disease [DOID:0090129]   ( DOID:0090129 )