CPT2-mangel adult form
Engelsk navn: Carnitine palmitoyl transferase II deficiency, myopathic form
Engelske synonym: CPT2, adult-onset form,CPT2, myopathic form,CPTII, adult-onset form,CPTII, myopathic form,Carnitine palmitoyl transferase II deficiency, adult-onset form,Carnitine palmitoyl transferase deficiency type 2, adult-onset form,Carnitine palmitoyl transferase deficiency type 2, myopathic form
Definisjon
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).
Fra Orphanet
ORPHA: 228302
Klassifiseringsnivå: Subtype of disorder
ICD-10: E71.3
Mer informasjon
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