Document Detail


Arylsulfatase A pseudodeficiency incidence in Turkey.
MedLine Citation:
PMID:  10936976     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Pseudodeficiency (Pd) in arylsulfatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy. Twelve of the 52 unrelated, healthy individuals were found to be heterozygous for the ASA Pd allele. In Turkey we estimated the incidence of the Pd allele as 11.5 percent. Out of 18 cases with MLD, one patient was found homozygous for the Pd allele and the other patient was found heterozygous.
Authors:
S Emre; M Topçu; M Terzioğlu; Y Renda
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  42     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    2000 Apr-Jun
Date Detail:
Created Date:  2000-09-15     Completed Date:  2000-09-15     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  TURKEY    
Other Details:
Languages:  eng     Pagination:  115-7     Citation Subset:  IM    
Affiliation:
Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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MeSH Terms
Descriptor/Qualifier:
Adult
Age Factors
Cerebroside-Sulfatase / deficiency,  genetics*
Child
Gene Frequency
Genotype
Humans
Leukodystrophy, Metachromatic / epidemiology,  genetics*
Mutation
Polymerase Chain Reaction
Turkey / epidemiology
Chemical
Reg. No./Substance:
EC 3.1.6.8/Cerebroside-Sulfatase

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


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