Document Detail

beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
MedLine Citation:
PMID:  1861456     Owner:  NLM     Status:  MEDLINE    
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.
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    
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, UK.
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MeSH Terms
Abnormalities, Multiple / enzymology
Brain Diseases / enzymology*,  genetics
Chromatography, Thin Layer
Disaccharides / urine
Epilepsy / enzymology,  genetics*
Fibroblasts / enzymology
Leukocytes / enzymology
Mannosidases / deficiency*
Oligosaccharides / urine
Reg. No./Substance:
0/Disaccharides; 0/Oligosaccharides; EC 3.2.1.-/Mannosidases; EC

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