Document Detail


3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy.
MedLine Citation:
PMID:  720359     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Choreoathetosis, spastic parapareses, dementia and optic atrophy were the main clinical features in a sibship with progressive encephalopathy of late onset. The urine contained constantly elevated amounts of 3-methylglutaric and 3-methylglutaconic acids. The identity of these metabolites was confirmed by synthesis and mass spectrometry. On leucine loading, the excretion of the metabolites was elevated.
Authors:
J Greter; B Hagberg; G Steen; U Söderhjelm
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European journal of pediatrics     Volume:  129     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1978 Dec 
Date Detail:
Created Date:  1979-02-12     Completed Date:  1979-02-12     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:  231-8     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Metabolism, Inborn Errors / diagnosis*,  genetics
Athetosis / etiology
Brain Diseases, Metabolic / etiology*
Child
Chorea / etiology
Female
Humans
Leucine / metabolism*
Male
Mental Retardation / etiology
Muscle Spasticity / etiology
Optic Atrophy / etiology
Chemical
Reg. No./Substance:
61-90-5/Leucine

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


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