UNLABELLED: Glycogen storage disease type III (GSD III; OMIM 232400) is an autosomal recessive deficiency of the glycogen debrancher enzyme, amylo-1,6-glucosidase (EC 3.2.1.33). Patients with other hepatic glycogenoses are known to have reduced bone mineral content (BMC) and to be at consequent risk of fractures. They have key metabolic differences from GSD III patients, however. This study examines bone density and metabolism in 15 GSD III patients (6 female) from childhood to adulthood (aged 10-34 years). The results demonstrate that patients with GSD III have low bone mass at all skeletal sites compared with healthy individuals of the same age and sex, with a significant proportion (40-64%) having BMD > 2 standard deviations below the mean for whole body and lumbar spine. The deficiency seems to be attributable to a mixed muscle andbone deficit. Lower bone mass was found at all sites for GSD IIIa patients (combined liver and muscle defect) compared with GSD IIIb patients (liver only defect). CONCLUSION: Patients with GSD III have significantly abnormal bone mass, placing them at increased risk of potential fracture. The underlying mechanism is probably multifactorial with contributions from abnormal muscle physiology, abnormal metabolic milieu and altered nutrition affecting micronutrient intake. Therapies need to address all these factors to be successful.
UNLABELLED: Glycogen storage disease type III (GSD III; OMIM 232400) is an autosomal recessive deficiency of the glycogen debrancher enzyme, amylo-1,6-glucosidase (EC 3.2.1.33). Patients with other hepatic glycogenoses are known to have reduced bone mineral content (BMC) and to be at consequent risk of fractures. They have key metabolic differences from GSD III patients, however. This study examines bone density and metabolism in 15 GSD III patients (6 female) from childhood to adulthood (aged 10-34 years). The results demonstrate that patients with GSD III have low bone mass at all skeletal sites compared with healthy individuals of the same age and sex, with a significant proportion (40-64%) having BMD > 2 standard deviations below the mean for whole body and lumbar spine. The deficiency seems to be attributable to a mixed muscle andbone deficit. Lower bone mass was found at all sites for GSD IIIa patients (combined liver and muscle defect) compared with GSD IIIb patients (liver only defect). CONCLUSION:Patients with GSD III have significantly abnormal bone mass, placing them at increased risk of potential fracture. The underlying mechanism is probably multifactorial with contributions from abnormal muscle physiology, abnormal metabolic milieu and altered nutrition affecting micronutrient intake. Therapies need to address all these factors to be successful.
Authors: E L Rosenfeld; I V Chibisov; I M Karmansky; V A Tabolin; L V Chistova; A F Leontiev Journal: Clin Chim Acta Date: 1980-03-14 Impact factor: 3.786