Carnitine palmitoyltransferase II deficiency (Q91975)
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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).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_204058632 |
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| English | Carnitine palmitoyltransferase II deficiency |
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). |
