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.
File in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
