Document Detail

Biochemical diagnosis of Canavan disease.
MedLine Citation:
PMID:  1288858     Owner:  NLM     Status:  MEDLINE    
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.
G Bartalini; M Margollicci; P Balestri; M A Farnetani; M Cioni; A Fois
Related Documents :
6777098 - A modified method for the identification of heterozygotes for gaucher's disease using d...
18724168 - Absence of cornea verticillata in hemizygotes of a novel mutation in fabry disease.
8889578 - Glucocerebrosidase (gaucher disease).
1389998 - Distribution of saposins (sphingolipid activator proteins) in tissues of lysosomal stor...
21537948 - Rnai: a potential new class of therapeutic for human genetic disease.
22858818 - Influenza among adults in latin america, current status, and future directions: a conse...
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    
Istituto di Clinica Pediatrica, Università degli Studi di Siena, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Amidohydrolases / metabolism*
Aspartic Acid / analogs & derivatives*,  metabolism
Biological Markers
Child, Preschool
Diffuse Cerebral Sclerosis of Schilder / diagnosis,  metabolism*
Head / abnormalities*
Reg. No./Substance:
0/Biological Markers; 56-84-8/Aspartic Acid; 997-55-7/N-acetylaspartate; EC 3.5.-/Amidohydrolases; EC

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

Previous Document:  Spinal epidural meningioma in a child.
Next Document:  Recurrent intrinsic brain stem epidermoid cyst.