DISEASE: Carnitine palmitoyltransferase II deficiency
Entry
H01982 Disease
Name
Carnitine palmitoyltransferase II deficiency
Supergrp
Disorders of mitochondrial fatty-acid oxidation [DS:H00525] Secondary hyperammonemia [DS:H01400] Mitochondrial disease [DS:H01427] Disorders of carnitine transport and the carnitine cycle [DS:H02596]
Description
Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder of mitochondrial long-chain fatty-acid oxidation. Three distinct clinical manifestations of CPT2 deficiency have been defined including a mild adult onset myopathy, a severe infantile disorder and a lethal neonatal form.
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C52 Inborn errors of lipid metabolism
H01982 Carnitine palmitoyltransferase II deficiency
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06020 beta-Oxidation in mitochondria
H01982 Carnitine palmitoyltransferase II deficiency
