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Metadata
ID DOID:0090129
Name carnitine palmitoyltransferase I 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.
https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency, https://www.omim.org/entry/255120
Xrefs

GARD:1120

ICD10CM:E71.3

OMIM:255120

ORDO:156

Synonyms

carnitine palmitoyl transferase 1A deficiency [EXACT]

carnitine palmitoyl transferase IA deficiency [EXACT]

CPT I deficiency [EXACT]

CPT1A deficiency [EXACT]

hepatic carnitine palmitoyl transferase 1 deficiency [EXACT]

hepatic carnitine palmitoyl transferase I deficiency [EXACT]

hepatic CPT deficiency type I [EXACT]

L-CPT1 deficiency [EXACT]

Parent Relationships

is_a lipid metabolism disorder

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