Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease Type 1a

Journal Article · Fri Oct 22 04:00:00 EDT 1993 · Science (Washington, D.C.); (United States)

DOI:https://doi.org/10.1126/science.8211187· OSTI ID:5241215

Lei, K J; Shelly, L L; Pan, C J; Sidbury, J B; Chou, J Y ^[1]

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1. National Institutes of Health, Bethesda, MD (United States)

Glycogen storage disease (GSD) type 1a is caused by the deficiency of d-glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. Despite both a high incidence and morbidity, the molecular mechanisms underlying this deficiency have eluded characterization. In the present study, the molecular and biochemical characterization of the human G6Pase complementary DNA, its gene, and the expressed protein, which is indistinguishable from human microsomal G6Pase are reported. Several mutations in the G6Pase gene of affected individuals that completely inactivate the enzyme have been identified. These results establish the molecular basis of this disease and open the way for future gene therapy.

• OSTI ID: 5241215
• Journal Information: Science (Washington, D.C.); (United States), Journal Name: Science (Washington, D.C.); (United States) Vol. 262:5133; ISSN SCIEAS; ISSN 0036-8075
• Country of Publication: United States
• Language: English

Related Subjects

550200 -- Biochemistry
550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AMINO ACID SEQUENCE
BIOLOGICAL ACCUMULATION
CARBOHYDRATES
DISEASES
DNA SEQUENCING
ENZYMES
ESTERASES
GENE MUTATIONS
GLYCOGEN
HYDROLASES
METABOLIC DISEASES
MOLECULAR STRUCTURE
MUTATIONS
ORGANIC COMPOUNDS
PHOSPHATASES
POLYSACCHARIDES
PROTEINS
SACCHARIDES
STRUCTURAL CHEMICAL ANALYSIS