Document Detail

Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.
MedLine Citation:
PMID:  9584265     Owner:  NLM     Status:  MEDLINE    
Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen debranching enzyme (AGL). We report the finding of two new mutations in a GSD IIIa Ashkenazi Jewish patient. Both mutations are insertion of an adenine into a stretch of 8 adenines towards the 3' end of the coding region, one at position 3904 (3904insA) in exon 30, the second at position 4214 (4214insA) in exon 32. The mutations cause frameshifts and premature terminations of the glycogen debranching enzyme, the first causing a frameshift at amino acid 1304, the second causing a frameshift at amino acid 1408 of the total of 1532. These mutations demonstrate the importance of the 125 amino acids at the carboxy-terminus of the debrancher enzyme for its activity and support the suggestion that the putative glycogen binding domain is located in the carboxy-terminus of the AGL. The mutations cause distinctive single-strand conformation polymorphism (SSCP) patterns enabling easy detection.
R Parvari; J Shen; E Hershkovitz; Y T Chen; S W Moses
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  21     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-06-11     Completed Date:  1998-06-11     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  141-8     Citation Subset:  IM    
Genetics Institute, Soroka Medical Center, Beer-Sheva, Israel.
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MeSH Terms
Child, Preschool
Glycogen Debranching Enzyme System / genetics*
Glycogen Storage Disease Type III / diagnosis,  genetics*
Polymorphism, Single-Stranded Conformational
Prenatal Diagnosis
Grant Support
Reg. No./Substance:
0/Glycogen Debranching Enzyme System; EC,6-glucosidase

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

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