Santer et al. (1997) noted that a functional loss of GLUT2 is compatible with the clinical symptoms observed in subjects with FBS. Hyperglycemia (and hypergalactosemia) in the fed state can be explained by decreased monosaccharide uptake b…

Glycogen storage disease type 1 (GSD-1), also known as von Gierke disease, is caused by a deficiency in the activity of the enzyme glucose-6-phosphatase (G6Pase). It is an autosomal recessive disorder characterized by hypoglycemia, hepatom…

TEXT A number sign (#) is used with this entry because aldolase A deficiency, also known as glycogen storage disease XII (GSD12), is caused by homozygous mutation in the ALDOA gene (103850). Description Aldolase A deficiency is an autosoma…

脱力、不整脈。心臓に異常な蓄積物が生じることに因る。 運動後に目眩と動悸を訴えた。心室細動を認め入院。除細動。 a 27-year-old man who had muscle weakness associated with the depletion of glycogen in skeletal muscle and cardiac arrhythmias as…

EC3.1.3.9 小胞体・膜に存在し、内腔で活性を示す。肝臓にあり、脳、骨格筋には存在しない。 細胞質中のグルコース6-リン酸は輸送体T1により小胞体内宮に入り加水分解されグルコースを生じる。グルコースとリン酸は各々輸送体T2、T3により細胞質に戻される。…