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Bone mineralisation in type 1 glycogen storage disease
P J Lee1, J S Patel, M Fewtrell
1Medical Unit, Institute of Child Health, London, UK.
Insights
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.
Unlabelled:
Radial bone mineral content (BMC) was measured using single photon absorptiometry in 11 prepubertal children, aged 3.4-12.6 years, with glycogen storage disease type 1 (GSD-1), 2 of whom were receiving granulocyte colony stimulating factor (G-CSF) therapy for chronic neutropenia. Patients were short (median height SD score -1.35, range -3.74 to -0.27), and had reduced BMC Z scores (median 1.79, range -6.35 to +0.27) and radial bone width Z scores (median -0.72, range -2.00 to +0.68). Those receiving G-CSF did not differ significantly from the rest of the group. Generally dietary calcium intake was low and urinary calcium excretion increased. Urinary lactate excretion was high but did not correlate with BMC Z scores. Factors regulating bone metabolism (parathyroid hormone and 25-hydroxy vitamin D concentrations) and markers of bone formation (osteocalcin and skeletal alkaline phosphatase) were not increased implying that there was no compensation for increased bone resorption.
Conclusion:
Patients with GSD-1 may be at increased risk of fracture in later life and require close attention to metabolic control and calcium balance.