Journal of neurology · 1991
Myoglobinuria and carnitine palmityl transferase deficiency in father and son.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Mongini T, Doriguzzi C, Palmucci L, Chiadò-Piat L, Maniscalco M, Schiffer D
Аннотация
A 18-year-old man had recurrent myoglobinuria following exercise and fasting. His parents originated from the same village, which has less than 1000 inhabitants. His 53-year-old father suffered from similar episodes, whereas his mother and elder brother were symptom free. Biochemical investigations on muscle and platelets disclosed carnitine palmityl transferase (CPT) deficiency in the patient and his father. His mother and brother showed intermediate CPT values consistent with their being heterozygotes. This appears to be the first report of CPT deficiency with recurrent myoglobinuria in two generations (so-called quasidominant transmission).