Related Experiment Videos
Bone mineralisation in type 1 glycogen storage disease
P J Lee1, J S Patel, M Fewtrell
1Medical Unit, Institute of Child Health, London, UK.
European Journal of Pediatrics
|June 1, 1995
Summary
Children with glycogen storage disease type 1 (GSD-1) exhibit reduced bone mineral content and width, potentially increasing fracture risk. Metabolic control and calcium balance are crucial for managing bone health in these patients.
Area of Science:
- Pediatrics
- Endocrinology
- Metabolic Disorders
Background:
- Glycogen storage disease type 1 (GSD-1) is a rare genetic disorder affecting glucose metabolism.
- Children with GSD-1 often present with short stature and metabolic complications.
- Bone health in pediatric GSD-1 patients is not well-characterized.
Purpose of the Study:
- To assess bone mineral content (BMC) and bone width in prepubertal children with GSD-1.
- To investigate potential correlations between metabolic factors and bone parameters.
- To evaluate the impact of GSD-1 on bone metabolism.
Main Methods:
- Radial bone mineral content (BMC) and bone width were measured using single photon absorptiometry in 11 prepubertal children with GSD-1.
- Height, dietary calcium intake, urinary calcium and lactate excretion were assessed.
- Serum parathyroid hormone, 25-hydroxy vitamin D, osteocalcin, and skeletal alkaline phosphatase levels were analyzed.
Main Results:
- Patients with GSD-1 showed reduced BMC Z scores (median -1.79) and radial bone width Z scores (median -0.72).
- Low dietary calcium intake and increased urinary calcium excretion were common.
- Elevated urinary lactate did not correlate with BMC Z scores; bone metabolism markers were not increased.
Conclusions:
- Pediatric patients with GSD-1 may have an increased risk of fractures later in life.
- Close monitoring of metabolic control and calcium balance is essential for bone health in GSD-1.
- Further research is needed to understand the long-term bone health implications of GSD-1.