Document Detail

Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.
MedLine Citation:
PMID:  8884087     Owner:  NLM     Status:  MEDLINE    
We describe two unrelated Dutch patients with typical symptoms of infantile glycogen storage disease type II (GSD II) and virtual absence of acid alpha-glucosidase activity in leukocytes and cultured skin fibroblasts. The patients were identified as homozygotes for a deletion of exon 18 of the acid alpha-glucosidase gene (GAA). The in-frame deletion manifests at the protein level in a characteristic way: the enzyme precursor is smaller than normal and degraded in the endoplasmic reticulum or Golgi complex. These case present an evident example of a genotype-phenotype correlation in glycogen storage disease type II.
M G Ausems; M A Kroos; M Van der Kraan; J A Smeitink; W J Kleijer; H K Ploos van Amstel; A J Reuser
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  49     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1996 Jun 
Date Detail:
Created Date:  1997-01-22     Completed Date:  1997-01-22     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  325-8     Citation Subset:  IM    
Clinical Genetics Centre Utrecht, The Netherlands.
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MeSH Terms
Chromosome Deletion*
Enzyme Precursors / metabolism*
Glycogen Storage Disease Type II / genetics*
Infant, Newborn
Lysosomes / enzymology*
alpha-Glucosidases / deficiency*,  metabolism
Reg. No./Substance:
0/Enzyme Precursors; EC

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