Document Detail


Reduced activity of arylsulfatase A and predisposition to neurological disorders: analysis of 140 pediatric patients.
MedLine Citation:
PMID:  1683156     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A sample of 140 children exhibiting neurologic disturbances (93 suffering from epilepsy and 47 with delayed psychomotor development or mental retardation) was tested for the activity of some lysosomal enzymes. A partial deficiency of arylsulfatase A (ASA) in leucocytes (activities lower than 60% of the control average) was detected in 36 patients (25.7%), whereas few ASA-deficient individuals (1.4%) were found in the control sample of 71 healthy children. Therefore, the frequency of ASA deficiency is abnormally high in our sample of pediatric patients. ASA activity levels were also assayed on fibroblasts from 12 of the 36 ASA-deficient patients; the mean activity in these cells was 20% of the control average. Excretion of urinary sulfatides was not increased in the tested ASA-deficient patients (10/36). Clinical symptoms of these ASA-deficient patients bore no resemblance to classical metachromatic leucodystrophy (MLD), but resemble literature cases labeled as atypical MLD or diagnostic puzzles. This result suggests that reduced ASA activity might be associated with an increased risk of developing neurologic or neuropsychiatric disturbances in children.
Authors:
S Sangiorgi; A Ferlini; A Zanetti; M Mochi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  40     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1991 Sep 
Date Detail:
Created Date:  1991-12-20     Completed Date:  1991-12-20     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  365-9     Citation Subset:  IM    
Affiliation:
Clinica Neurologica, Università di Bologna, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Cerebroside-Sulfatase / deficiency*
Child
Child, Preschool
Clinical Enzyme Tests
Female
Humans
Infant
Lysosomes / enzymology
Male
Nervous System Diseases / diagnosis,  enzymology*
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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