Document Detail


beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
MedLine Citation:
PMID:  1861456     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a female infant with an isolated deficiency of beta-mannosidase activity. At nine months of age dysmorphism was absent except for brachecephaly. There was moderate developmental delay and a startle response to sound. At 12 months there was a sudden onset of tonic-clonic seizures which were unresponsive to drug therapy, requiring paralysis and mechanical ventilation for control. The child died suddenly aged 15 months. beta-mannosidase activity was markedly reduced in white cells and cultured skin fibroblasts whilst other lysosomal enzymes were normal. The disaccharide ManGlcNAc was excreted in urine but urinary mucopolysaccharides were normal.
Authors:
A Cooper; J E Wraith; W J Savage; M Thornley; M J Noronha
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  14     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1991  
Date Detail:
Created Date:  1991-09-03     Completed Date:  1991-09-03     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  18-22     Citation Subset:  IM    
Affiliation:
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, UK.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / enzymology
Brain Diseases / enzymology*,  genetics
Chromatography, Thin Layer
Disaccharides / urine
Epilepsy / enzymology,  genetics*
Female
Fibroblasts / enzymology
Humans
Infant
Leukocytes / enzymology
Mannosidases / deficiency*
Oligosaccharides / urine
beta-Mannosidase
Chemical
Reg. No./Substance:
0/Disaccharides; 0/Oligosaccharides; EC 3.2.1.-/Mannosidases; EC 3.2.1.25/beta-Mannosidase

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


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