" /> Carnitine Palmitoyltransferase II Deficiency - CISMeF





Preferred Label : Carnitine Palmitoyltransferase II Deficiency;

NCIt synonyms : CPT II Deficiency;

NCIt definition : A rare, autosomal recessive inherited disorder of long-chain fatty-acid oxidation caused by mutations in the CPT2 gene. The disease includes three main types: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.;

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10/05/2024


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