Article
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.
Neuropediatrics - 1 Feb 1999
de Lonlay-Debeney P, Edery P, Cormier-Daire V, Parfait B, Chrétien D, Rötig A, Romero N, Saudubray J M, Munnich A, Rustin P
Abstract excerpt
Myoglobinuria is an abnormal urinary excretion of myoglobin due to an acute destruction of skeletal muscle fibres. Several metabolic diseases are known to account for myoglobinuria including defects of glycolysis and fatty acid oxidation. Here, we report on respiratory chain enzyme deficiency in three unrelated children with recurrent episodes of myoglobinuria and muscle weakness (complex I: one patient, complex...
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