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disease: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced

id727
nameCarnitine palmitoyltransferase II deficiency, myopathic, stress-induced
descriptionCarnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
variant-disease NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs) AND Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) AND Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
NM_000098.3(CPT2):c.1360G>T (p.Glu454Ter) AND Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
NM_000098.3(CPT2):c.54_72dup (p.Leu25fs) AND Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) AND Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
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