carnitine palmitoyltransferase I deficiency
Go to external page http://purl.obolibrary.org/obo/DOID_0090129
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. [ url:https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency url:https://www.omim.org/entry/255120 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007636 ]
Synonyms: hepatic CPT deficiency type I CPT1A deficiency CPT I deficiency hepatic carnitine palmitoyl transferase I deficiency hepatic carnitine palmitoyl transferase 1 deficiency carnitine palmitoyl transferase IA deficiency carnitine palmitoyl transferase 1A deficiency L-CPT1 deficiency