Document Detail

Glutathione synthetase deficiency.
MedLine Citation:
PMID:  15990954     Owner:  NLM     Status:  MEDLINE    
Glutathione (GSH), one of the most important antioxidants in the eukaryotic organism, is synthesized in a two-step procedure where the last step is catalysed by the enzyme glutathione synthetase (GSS). GSS deficiency is inherited autosomal recessively, and patients with this disease can be divided into three groups, according to their clinical phenotype. Mildly affected patients have mutations affecting the stability of the enzyme, causing a compensated haemolytic anaemia; moderately affected patients have, in addition, metabolic acidosis; and severely affected patients also develop neurological defects and show increased susceptibility to bacterial infections. Moderately and severely affected patients have mutations that compromise the catalytic properties of the enzyme. 5-Oxoprolinuria appears in all three groups, but is more pronounced in the two latter groups. Today, no cure can be offered these patients; they are given vitamins C and E to boost their antioxidant levels, and bicarbonate to correct metabolic acidosis.
R Njålsson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Cellular and molecular life sciences : CMLS     Volume:  62     ISSN:  1420-682X     ISO Abbreviation:  Cell. Mol. Life Sci.     Publication Date:  2005 Sep 
Date Detail:
Created Date:  2005-09-06     Completed Date:  2005-10-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9705402     Medline TA:  Cell Mol Life Sci     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  1938-45     Citation Subset:  IM    
Division of Paediatrics, Department of Clinical Sciences, Karolinska Institutet, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.
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MeSH Terms
Acidosis / diagnosis,  enzymology*,  therapy
Anemia, Hemolytic, Congenital / diagnosis,  enzymology*,  therapy
Brain Diseases, Metabolic / diagnosis,  enzymology*,  therapy
Glutathione / metabolism*
Glutathione Synthase / deficiency*,  genetics
Reg. No./Substance:
70-18-8/Glutathione; EC Synthase

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