A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency.

Journal of Inherited Metabolic Disease
Hidde H HuidekoperFrits A Wijburg

Abstract

A potential role for muscle in glucose homeostasis was recently suggested based on characterization of extrahepatic and extrarenal glucose-6-phosphatase (glucose-6-phosphatase-beta). To study the role of extrahepatic tissue in glucose homeostasis during fasting glucose kinetics were studied in two patients with a deficient hepatic and renal glycogenolysis and/or gluconeogenesis. Endogenous glucose production (EGP), glycogenolysis (GGL), and gluconeogenesis (GNG) were quantified with stable isotopes in a patient with glycogen storage disease type 1a (GSD-1a) and a patient with fructose-1,6-bisphosphatase (FBPase) deficiency. The [6,6-(2)H(2)]glucose dilution method in combination with the deuterated water method was used during individualized fasting tests. Both patients became hypoglycemic after 2.5 and 14.5 h fasting, respectively. At that time, the patient with GSD-1a had EGP 3.84 micromol/kg per min (30% of normal EGP after an overnight fast), GGL 3.09 micromol/kg per min, and GNG 0.75 micromol/kg per min. The patient with FBPase deficiency had EGP 8.53 micromol/kg per min (62% of normal EGP after an overnight fast), GGL 6.89 micromol/kg per min GGL, and GNG 1.64 micromol/kg per min. EGP was severely hampered in both patient...Continue Reading

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Citations

Feb 1, 2011·Die Naturwissenschaften·Matti VornanenJaakko Haverinen
Oct 7, 2015·Ultrasound in Medicine & Biology·Renate J VerbeekDeborah A Sival
Jul 20, 2011·Mass Spectrometry Reviews·Henk SchierbeekJohannes B van Goudoever
Jan 31, 2015·Journal of Inherited Metabolic Disease·Terry G J Derks, Margreet van Rijn
Jan 11, 2018·Journal of Inherited Metabolic Disease·D-J Reijngoud
Feb 7, 2019·Journal of Inherited Metabolic Disease·Ronald J A WandersRiekelt H Houtkooper
Jul 20, 2019·The Journal of Clinical Endocrinology and Metabolism·Silvio BuscemiMaurizio Averna

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