" /> Carnitine palmitoyltransferase II deficiency, infantile - CISMeF





Preferred Label : Carnitine palmitoyltransferase II deficiency, infantile;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cpt II deficiency, hepatic; Cpt2 deficiency, infantile; Carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia; Carnitine palmitoyltransferase II deficiency, hepatocardiomuscular;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the carnitine palmitoyltransferase II gene (CPT2, 600650.0001);

Laboratory abnormalities : Decreased carnitine palmitoyltransferase II (CPT2) activity; Decreased levels of CPT2 protein; Decreased palmitate oxidation; Increased liver function tests; Hyperammonemia; Increased creatine kinase; Reduced total and free carnitine in plasma and tissue; Increased long-chain acylcarnitine;

Prefixed ID : #600649;

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05/05/2025


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