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Disease Ontology Term: carnitine palmitoyltransferase I deficiency

DO ID
DOID:0090129
Description
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
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
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