Document Detail


Sarcosinaemia in a retarded, amaurotic child.
MedLine Citation:
PMID:  2420598     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 9-month-old Turkish girl demonstrated an abnormal qualitative amino acid excretion pattern suggestive of sarcosinaemia. She was blind and had evidence of developmental and motor retardation. No other physical abnormalities were noted. Quantitative amino acid analysis revealed elevated serum and urine sarcosine levels. An oral sarcosine loading test showed an exaggerated response with a delayed conversion to glycine. Sarcosine was undetected in other family members.
Authors:
A C Sewell; M Krille; I Wilhelm
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European journal of pediatrics     Volume:  144     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1986 Feb 
Date Detail:
Created Date:  1986-05-22     Completed Date:  1986-05-22     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  508-10     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Metabolism, Inborn Errors / complications*
Blindness / complications*
Female
Glycine / blood,  urine
Humans
Infant
Mental Retardation / complications*
Sarcosine / blood*,  urine
Chemical
Reg. No./Substance:
107-97-1/Sarcosine; 56-40-6/Glycine

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


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