J Pediatr. 1998 Feb;132(2):360-1.

A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.

Keller KM, Schütz M, Podskarbi T, Bindl L, Lentze MJ, Shin YS.

Source

University Children's Hospitals of Bonn and Munich and Medical Immunology Laboratory, Munich, Germany.

Abstract

A 4-year-old German girl was diagnosed as having glycogen storage disease type la and showed no other marked symptoms except hepatomegaly. The glucose-6-phosphatase activity in the liver was approximately 1.5% to 5.0% of normal values, and molecular analysis revealed compound heterozygosity for R83C and the novel mutation N264K. This result indicates that there is a wide clinical variation of glucose-6-phosphatase deficiency. DNA analysis is helpful for confirmation of the diagnosis, as well as establishment of the genotype and phenotype correlation in glycogen storage disease type 1a.

PMID:: 9506659; [PubMed - indexed for MEDLINE]

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Glucose-6-Phosphatase

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A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.
J Pediatr. 1998 Feb ;132(2):360-1.

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