Document Detail


Biochemical diagnosis of Canavan disease.
MedLine Citation:
PMID:  1288858     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme possibly involved in the myelin synthesis. These biochemical findings have provided a diagnostic marker for the disease. We report a new case of infantile CD in which the demonstration of N-acetylaspartic aciduria and a marked deficiency of aspartoacylase activity confirmed the diagnosis.
Authors:
G Bartalini; M Margollicci; P Balestri; M A Farnetani; M Cioni; A Fois
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery     Volume:  8     ISSN:  0256-7040     ISO Abbreviation:  Childs Nerv Syst     Publication Date:  1992 Dec 
Date Detail:
Created Date:  1993-03-23     Completed Date:  1993-03-23     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8503227     Medline TA:  Childs Nerv Syst     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  468-70     Citation Subset:  IM    
Affiliation:
Istituto di Clinica Pediatrica, Università degli Studi di Siena, Italy.
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MeSH Terms
Descriptor/Qualifier:
Amidohydrolases / metabolism*
Aspartic Acid / analogs & derivatives*,  metabolism
Biological Markers
Child, Preschool
Diffuse Cerebral Sclerosis of Schilder / diagnosis,  metabolism*
Female
Head / abnormalities*
Humans
Chemical
Reg. No./Substance:
0/Biological Markers; 56-84-8/Aspartic Acid; 997-55-7/N-acetylaspartate; EC 3.5.-/Amidohydrolases; EC 3.5.1.15/aspartoacylase

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


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