Definicja
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).
Definicja
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).
Dane
Klasyfikacja
Choroba
Synonimy
CPT2
CPT2
CPTII
Niedobór palmitylotransferazy karnityny 2
CPTII
Carnitine palmitoyltransferase deficiency type 2
Kod ORPHA
157
Kod OMIM
608836
Kod ICD10
E71.3
Kod ICD11
5C52.00
Brak opisu rozszerzonego dla tej choroby. Opracowanie w toku.
Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl