Carnitine palmitoyltransferase II deficiency (Q91975): Difference between revisions
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A deficiência de carnitina palmitoiltransferase II é um transtorno metabólico hereditário que afeta a oxidação mitocondrial de ácidos graxos de cadeia longa. Foram descritas três formas de deficiência de carnitina palmitoiltransferase II: uma forma miopática, uma forma infantil grave e uma forma neonatal (ver estes termos). | |||
| description / en | description / en | ||
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). | |||
Revision as of 07:07, 16 August 2026
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). |
