Communicated by William S
Unreliability of platelet glucose-6-phosphatase for the diagnosis of glycogen storage disease type Ia
โ Scribed by J. D. Goldberg; S. C. Terleaven; M. Koresawa; T. Simpson; M. S. Golbus
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 343 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0141-8955
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๐ SIMILAR VOLUMES
Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive disorder of glycogen metabolism caused by glucose-6-phosphatase (G6Pase) deficiency. It is characterized by short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. Various mutations have been reported in the G
Three novel mutations, Q54P, W70X and T108I, were identified in the gene encoding glucose-6phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, was
We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterog