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    
Abstract/OtherAbstract:
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:
A Federico; M T Dotti; G M Fabrizi; S Palmeri; L Massimo; B H Robinson; A Malandrini; G C Guazzi
Related Documents :
18328653 - Middle ear adenoma diagnosed by recurrent facial paralysis.
7212623 - Neurilemmoma of the vagus nerve.
189973 - Bullous pemphigoid and rheumatoid arthritis with herpes simplex in the vesicular fluid.
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    
Affiliation:
Istituto di Scienze Neurologiche e Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, Università di Siena, Italia.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Acidosis, Lactic / congenital*,  drug therapy,  enzymology
Bicarbonates / therapeutic use
Biopsy
Brain Diseases, Metabolic / etiology*
Child
Fibroblasts / cytology,  enzymology*
Humans
Leigh Disease / enzymology,  etiology*
Male
Peripheral Nervous System Diseases / etiology*,  pathology
Pyruvate Dehydrogenase Complex Deficiency Disease*
Skin / cytology
Sodium / therapeutic use
Sodium Bicarbonate
Chemical
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


Previous Document:  Atrial natriuretic peptide response to endurance physical training in the rat.
Next Document:  Selective loss of T cell functions in different stages of HIV infection. Early loss of anti-CD3-indu...