Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene.

doi:10.1007/s004390051140

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Article

Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene.

Human genetics - 1 Nov 1999

Lin B, Hiraiwa H, Pan C J, Nordlie R C, Chou J Y

Abstract excerpt

Glycogen storage disease type 1 (GSD-1) is a group of autosomal recessive disorders caused by deficiencies in glucose-6-phosphatase (G6Pase) and the associated substrate/product transporters. Molecular genetic studies have demonstrated that GSD-1a and GSD-1b are caused by mutations in the G6Pase enzyme and a glucose-6-phosphate transporter (G6PT), respectively. While kinetic studies of G6Pase catalysis predict...

Topics

Antiporters
DNA Mutational Analysis
Glucose-6-Phosphatase
Glycogen Storage Disease Type I
Humans
Kinetics
Monosaccharide Transport Proteins
Mutation
Polymorphism, Single-Stranded Conformational
RNA, Messenger

Source

Open in PubMed

Identifiers

PMID: 10598822
DOI: 10.1007/s004390051140

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