Document Detail


The inborn errors of sialic acid metabolism and their laboratory investigation.
MedLine Citation:
PMID:  16584062     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Sialic acid (SA), a terminal monosaccharide of glycoconjugates, has a central role in human biological function. Various point mutations result in the malmetabolism of SA and inherited disorders: Defective SA synthesis causes sialuria and defective SA catabolism causes sialidosis and sialic acid storage disease (SASD). These inborn errors of metabolism are characterised by increased urinary free SA. This article reviews biochemical and clinical features that are distinct to each disorder. In view of recent evidence indicating a wide underestimation in the prevalence of sialic acid disorders, laboratory methods for determining urinary free SA and its implications for screening and prenatal diagnosis are evaluated.
Authors:
Karina P Gopaul; Martin A Crook
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Clinical laboratory     Volume:  52     ISSN:  1433-6510     ISO Abbreviation:  Clin. Lab.     Publication Date:  2006  
Date Detail:
Created Date:  2006-04-04     Completed Date:  2006-04-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9705611     Medline TA:  Clin Lab     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  155-69     Citation Subset:  IM    
Affiliation:
'Guy's, King's, and St. Thomas' Hospitals School of Medicine, King's College London, London, UK.
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MeSH Terms
Descriptor/Qualifier:
Chemistry, Clinical / methods*
Humans
Mass Screening
Mucolipidoses / diagnosis,  genetics,  metabolism*
N-Acetylneuraminic Acid / metabolism*
Prenatal Diagnosis
Sialic Acid Storage Disease / diagnosis,  genetics*,  metabolism*
Chemical
Reg. No./Substance:
131-48-6/N-Acetylneuraminic Acid

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


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