Document Detail

An unusual form of arylsulfatase A deficiency combined with sulfatide-excretion and a normal sulfatide-loading.
MedLine Citation:
PMID:  6143469     Owner:  NLM     Status:  MEDLINE    
A 7-year-old girl who showed retarded psychomotor development and generalized hypotonia without any signs of progression is described. Marked deficiency of arylsulfatase A activity in leukocytes and fibroblasts was observed. Both parents showed activity in cultured fibroblasts within the heterozygote-normal range. Cerebroside-sulfatase activity was absent in cultured fibroblasts from the patient. Urinary analyses revealed a pathologically increased sulfatide excretion. Normal sensory nerve conduction velocity was found, but no metachromatic material was found in a sural nerve biopsy. Loading of the patient's fibroblasts with sulfatides resulted in normal uptake and normal degradation.
T Tønnesen; M Schultz Andersen; T Burkart; H Christomanou; K Brøndum Nielsen; U N Wiesmann
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Acta paediatrica Scandinavica     Volume:  72     ISSN:  0001-656X     ISO Abbreviation:  Acta Paediatr Scand     Publication Date:  1983 Nov 
Date Detail:
Created Date:  1984-05-08     Completed Date:  1984-05-08     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0000211     Medline TA:  Acta Paediatr Scand     Country:  SWEDEN    
Other Details:
Languages:  eng     Pagination:  837-41     Citation Subset:  IM    
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MeSH Terms
Cerebroside-Sulfatase / deficiency*
Fibroblasts / enzymology
Leukocytes / enzymology
Muscle Hypotonia / enzymology
Psychomotor Disorders / enzymology
Sulfatases / deficiency*
Sulfoglycosphingolipids / metabolism,  urine*
Reg. No./Substance:
0/Sulfoglycosphingolipids; EC 3.1.6.-/Sulfatases; EC

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