We report an 8-year-old patient with clinical features suggesting Leigh’s syndrome and with a decreased activity of the E component of the pyruvate dehydrogenase complex in cultured skin fibroblasts. A nerve biopsy showed the presence of severe peripheral neuropathy, rarely described in the literature. The partial correction of lactic acidosis with oral sodium bicarbonate chronic therapy may result in a slow evolution of the clinical symptoms. © 1990 S. Karger AG, Basel.

Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy.

Fabrizi G. M.;
1990-01-01

Abstract

We report an 8-year-old patient with clinical features suggesting Leigh’s syndrome and with a decreased activity of the E component of the pyruvate dehydrogenase complex in cultured skin fibroblasts. A nerve biopsy showed the presence of severe peripheral neuropathy, rarely described in the literature. The partial correction of lactic acidosis with oral sodium bicarbonate chronic therapy may result in a slow evolution of the clinical symptoms. © 1990 S. Karger AG, Basel.
1990
Lactic acidosis; Leigh’s syndrome; Peripheral neuropathy; Pyruvate dehydrogenase deficiency;
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/310568
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