carnitine palmitoyltransferase I deficiency

Term ID

DOID:0090129

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
• MIM:255120
• ORDO:156

Ontology

Human Disease   ( DOID:0090129 )