Glycogen storage disease type 1b (GSD-1b) is due to an autosomal recessive inborn error of carbohydrate metabolism caused by defects in glucose-6-phosphatase translocase. Patients with GSD-1b have severe hypoglycemia with several clinical manifestations of hepatomegaly, obesity, a doll-like face, an
Glycogen storage disease type Ib: Infectious complications and measures for prevention
β Scribed by U. Wendel; H. Schroten; S. Burdach; V. Wahn
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 261 KB
- Volume
- 152
- Category
- Article
- ISSN
- 0340-6997
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Persistent neutropenia and repeated respiratory infections were documented in a girl with glycogen storage disease type Ib. A termino-lateral portacaval shunt resulted in normalisation of the granulocyte counts and disappearance of the recurrent infections. The platelet dysfunction that was apparent
## Abstract Glycogen storage disease type Ib is an autosomal recessive inherited metabolic disorder resulting from deficiency of the microsomal glucoseβ6βphosphatase enzyme system. Six patients (three of which were treated with granulocyte colony stimulating factor) suffering from this disease were
Glycogen storage disease type Ib is caused by a mutation in the gene encoding microsomal glucose-6-phosphate (G6P) transporter. We determined the exon/intron organization of the G6P transporter gene. Four overlapping genomic fragments containing the entire coding region of the gene were amplified by