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
Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers
β Scribed by Minoru Okubo; Yoshiko Aoyama; Masahiko Kishimoto; Yoshimasa Shishiba; Toshio Murase
- Book ID
- 110887605
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 546 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0009-9163
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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