DISEASES

Disease-gene associations mined from literature

Human genes for carnitine palmitoyltransferase I deficiency

Carnitine palmitoyltransferase I deficiency [DOID:0090129]

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 palmitoyltransferase I deficiency,  DOID:0090129,  carnitine palmitoyltransferase I deficiencies,  CPT I deficiency,  CPT1A deficiency ...