Document Detail

Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy.
MedLine Citation:
PMID:  2162773     Owner:  NLM     Status:  MEDLINE    
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.
A Federico; M T Dotti; G M Fabrizi; S Palmeri; L Massimo; B H Robinson; A Malandrini; G C Guazzi
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European neurology     Volume:  30     ISSN:  0014-3022     ISO Abbreviation:  Eur. Neurol.     Publication Date:  1990  
Date Detail:
Created Date:  1990-08-01     Completed Date:  1990-08-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0150760     Medline TA:  Eur Neurol     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  123-7     Citation Subset:  IM    
Istituto di Scienze Neurologiche e Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, Università di Siena, Italia.
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MeSH Terms
Acidosis, Lactic / congenital*,  drug therapy,  enzymology
Bicarbonates / therapeutic use
Brain Diseases, Metabolic / etiology*
Fibroblasts / cytology,  enzymology*
Leigh Disease / enzymology,  etiology*
Peripheral Nervous System Diseases / etiology*,  pathology
Pyruvate Dehydrogenase Complex Deficiency Disease*
Skin / cytology
Sodium / therapeutic use
Sodium Bicarbonate
Reg. No./Substance:
0/Bicarbonates; 144-55-8/Sodium Bicarbonate; 7440-23-5/Sodium

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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