You are using an outdated browser. Please upgrade your browser to improve your experience.

carnitine palmitoyl transferase 1A deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.
Uniprot Description Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood.
Disease Ontology 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.
Mondo Term and Equivalent IDs
MONDO:0009705:  carnitine palmitoyl transferase 1A deficiency
GARD:0001120: 
MESH:C535588: 
NCIT:C98871: 
Orphanet:156: 
SCTID:238001003: 
UMLS:C1829703: