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DOID:0090129 - carnitine palmitoyltransferase I deficiency
Disease Ontology Definition:A lipid metabolism disorder characterized by autosomal recessive inheritance of impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the CPT1A gene on chromosome 11q13.
Synonyms: CPT I deficiency, CPT1A deficiency, L-CPT1 deficiency, carnitine palmitoyl transferase 1A deficiency, carnitine palmitoyl transferase IA deficiency, hepatic CPT deficiency type I, hepatic carnitine palmitoyl transferase 1 deficiency, hepatic carnitine palmitoyl transferase I deficiency,
Echinobase Genes :
MIM:255120 - carnitine palmitoyltransferase i deficiency |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
lipid metabolism disorder (is_a)