Document Detail

3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy.
MedLine Citation:
PMID:  720359     Owner:  NLM     Status:  MEDLINE    
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.
J Greter; B Hagberg; G Steen; U Söderhjelm
Related Documents :
4039459 - Further characterization of the endogenous natriuretic and digoxin-like immunoreacting ...
239999 - Manipulation of neurotransmitters by acupuncture (?) (a preliminary communication).
2568909 - Identification of etretinate metabolites in human blood.
6120809 - Metabolism of clofazimine in leprosy patients.
5075259 - The determination of isoniazid and its metabolites acetylisoniazid, monoacetylhydrazine...
7471469 - A simple and reliable enzymatic assay for the determination of formic acid in urine.
15810619 - How to make a barrett esophagus: pathophysiology of columnar metaplasia of the esophagus.
2967979 - Biochemical mechanisms of oxfenicine cardiotoxicity.
12489469 - Pathogenesis of gastroesophageal reflux disease.
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Amino Acid Metabolism, Inborn Errors / diagnosis*,  genetics
Athetosis / etiology
Brain Diseases, Metabolic / etiology*
Chorea / etiology
Leucine / metabolism*
Mental Retardation / etiology
Muscle Spasticity / etiology
Optic Atrophy / etiology
Reg. No./Substance:

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

Previous Document:  Atopy as a minimal immunodeficiency?
Next Document:  Analysis of left and right ventricular size and shape, as determined from human casts. Description o...