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Bone mineralisation in type 1 glycogen storage disease

  • Metabolic Diseases
  • Original Paper
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Abstract

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.

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Abbreviations

BMC :

radial bone mineral content

BW :

radial bone width

G-CSF :

granulocyte colony stimulating factor

GSD :

glycogen storage disease

PTH :

parathyroid hormone

SAP :

skeletal alkaline phosphatase

SDS :

standard deviation score

SPA :

single photon absorptiometry

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Authors and Affiliations

  1. The Medical Unit, Institute of Child Health, 30, Guilford Street, WC1N 1EH, London, UK

    Philip J. Lee, Jatin S. Patel & James V. Leonard

  2. The MRC Dunn Nutrition Unit, Milton Road, CB4 1XJ, Cambridge, UK

    Mary Fewtrell

  3. University Department of Paediatrics, Addenbrooke's Hospital, Cambridge, UK

    Nicholas J. Bishop

Authors
  1. Philip J. Lee
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  2. Jatin S. Patel
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  3. Mary Fewtrell
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  4. James V. Leonard
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  5. Nicholas J. Bishop
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Lee, P.J., Patel, J.S., Fewtrell, M. et al. Bone mineralisation in type 1 glycogen storage disease. Eur J Pediatr 154, 483–487 (1995). https://doi.org/10.1007/BF02029361

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  • DOI: https://doi.org/10.1007/BF02029361

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