sodium-bicarbonate has been researched along with Pyruvate-Dehydrogenase-Complex-Deficiency-Disease* in 1 studies
1 other study(ies) available for sodium-bicarbonate and Pyruvate-Dehydrogenase-Complex-Deficiency-Disease
| Article | Year |
|---|---|
Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy.
We report an 8-year-old patient with clinical features suggesting Leigh's syndrome and with a decreased activity of the E1 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. Topics: Acidosis, Lactic; Bicarbonates; Biopsy; Brain Diseases, Metabolic; Child; Fibroblasts; Humans; Leigh Disease; Male; Peripheral Nervous System Diseases; Pyruvate Dehydrogenase Complex Deficiency Disease; Skin; Sodium; Sodium Bicarbonate | 1990 |