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
Related Documents :
955057 - Synthesis of new alpha-hydrazinoarylacetic acids and derivatives.
8217467 - Carbohydrate histochemistry of skin glands in the turkish angora goat.
17499767 - Effect of the branched-chain alpha-keto acids accumulating in maple syrup urine disease...
16678367 - Alpha-amylase inhibitory activity of some malaysian plants used to treat diabetes; with...
18792767 - Downregulation of inflammatory responses by novel caffeic acid ester derivative by inhi...
4685087 - Gastric acid secretion rate and buffer content of the stomach after eating. results in ...
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
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

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

Previous Document:  Partial trisomy 6p due to maternal t(1;6) translocation.
Next Document:  The syndrome of delayed posthemiplegic hemidystonia, hemiatrophy, and partial seizure: clinical, neu...