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DOID:0090129 - carnitine palmitoyltransferase I deficiency
Disease Ontology 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.
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
Xenbase Genes
:
cpt1al
| MONDO:0009705 - carnitine palmitoyl transferase 1A deficiency |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee