Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation

@inproceedings{Melis2015GlycogenSD,
  title={Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation},
  author={Daniela Melis and Alessandro Rossi and Rosario Pivonello and Mariacarolina Salerno and Francesca Balivo and Simona Spadarella and Giovanna Muscogiuri and Roberto Della Casa and Pietro Formisano and Generoso Andria and Annamaria Colao and Giancarlo Parenti},
  booktitle={Orphanet journal of rare diseases},
  year={2015}
}
BACKGROUND In GSDIa, glucose 6-phosphate (G6P) accumulates in the endoplasmic reticulum (ER); in GSDIb, G6P levels are reduced in ER. G6P availability directly modulates the activity of 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme playing a key role in the development of the metabolic syndrome (MS). OBJECTIVE To evaluate the prevalence of MS and Insulin Resistance (IR) in GSDIa and GSDIb patients. PATIENTS AND METHODS This was a prospective study. All the enrolled… CONTINUE READING
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