Glykogenose Typ I mit normaler Aktivität der Glucose-6-Phosphatase in vitro

Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia. The overall glucose-6-phosphatase activity in disrupted microsomes from liver is normal whereas glucose-6-phosphate translocase, the first enzyme in the glucose-6-phosphate transport system is absent. There is no glucose-6-phosphatase activity in vivo. Recent results show that in granulocytes the glucose-6-phosphate-dependent hexosemonophosphate-shunt is impaired.

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Glykogenose Typ I mit normaler Aktivität der Glucose-6-Phosphatase in vitro

Cited by 2 publications

References 9 publications

Glycogenosis type Ib complicated by severe granulocytopenia resembling inherited neutropenia

Glycogenosis type Ib complicated by severe granulocytopenia resembling inherited neutropenia

Glycogen storage disease type Ib

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