Carnitine palmitoyltransferase II deficiency

Orpha code: 157OMIM code: 608836

Definition

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).

Disease data
Classification

Disease

Synonyms
CPT2
CPT2
CPTII
Niedobór palmitylotransferazy karnityny 2
CPTII
Carnitine palmitoyltransferase deficiency type 2
ORPHA code
157
OMIM code
608836
ICD10 code
E71.3
ICD11 code
5C52.00

No additional description.

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