title: Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy.
abstract: 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.
authors.affiliation: Istituto di Scienze Neurologiche e Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, Università di Siena, Italia.
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: G M
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: L
authors.initials: L
authors.lastname: Massimo
authors.forename: B H
authors.initials: BH
authors.lastname: Robinson
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: G C
authors.initials: GC
authors.lastname: Guazzi
mesh_terms: D000140:Acidosis, Lactic / Q000151:congenital* / Q000188:drug therapy / Q000201:enzymology; D001639:Bicarbonates / Q000627:therapeutic use; D001706:Biopsy; D001928:Brain Diseases, Metabolic / Q000209:etiology*; D002648:Child; D005347:Fibroblasts / Q000166:cytology / Q000201:enzymology*; D006801:Humans; D007888:Leigh Disease / Q000201:enzymology / Q000209:etiology*; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000209:etiology* / Q000473:pathology; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D012867:Skin / Q000166:cytology; D012964:Sodium / Q000627:therapeutic use; D017693:Sodium Bicarbonate
chemical_list: D001639:Bicarbonates; D017693:Sodium Bicarbonate; D012964:Sodium