Carnitine palmitoyltransferase II deficiency, infantile - CISMeF
Carnitine palmitoyltransferase II deficiency, infantileOMIM Phenotype
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;