ZFIN Human Disease: carnitine palmitoyltransferase I deficiency

OBO ID: DOID:0090129

Term Name:	carnitine palmitoyltransferase I deficiency		Search Ontology:
Synonyms:	carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency CPT I deficiency CPT1A deficiency hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency hepatic CPT deficiency type I L-CPT1 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. (2)
References:	GARD:1120 ICD10CM:E71.3 OMIM:255120 ORDO:156
Ontology:	Human Disease ( DOID:0090129 )

Relationships

is a type of:	lipid metabolism disorder lipid metabolism disorder Show first 5 Terms

OTHER carnitine palmitoyltransferase I deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CPT1A	cpt1a2a cpt1a2b cpt1ab cpt1aa	CPT deficiency, hepatic, type IA	255120

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None