Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b

D. Melis, R. Pivonello, M. Cozzolino, R. Della Casa, F. Balivo, A. Del Puente, C. Dionisi-Vici, G. Cotugno, C. Zuppaldi, M. Rigoldi, R. Parini, A. Colao, G. Andria, G. Parenti

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1. Objectives: The aim of this study was to investigate the effects of poor metabolic control and/or use of GSD1-specific treatments on bone mineral density (BMD) and metabolism in GSD1 patients. Methods: In a multicenter, cross-sectional case-control study, we studied 38 GSD1 (29 GSD1a and 9 GSD1b) patients. Clinical, biochemical and instrumental parameters indicative of bone metabolism were analyzed; BMD was evaluated by dual-emission X-ray absorptiometry and quantitative ultrasound. Results: Both GSD1a and GSD1b patients showed reduced BMD compared with age-matched controls. In GSD1a patients, these abnormalities correlated with compliance to diet and biochemical indicators of metabolic control. In GSD1b patients, BMD correlated with the age at first administration and the duration of granulocyte colony-stimulating factor (G-CSF) therapy. Conclusions: Our data indicate that good metabolic control and compliance with diet are highly recommended to improve bone metabolism in GSD1a patients. GSD1b patients on G-CSF treatment should be carefully monitored for the risk of osteopenia/osteoporosis.

Original languageEnglish
Pages (from-to)55-62
Number of pages8
JournalHormone Research in Paediatrics
Volume81
Issue number1
DOIs
Publication statusPublished - 2014

Keywords

  • Bone metabolism
  • Bone mineral density
  • Glycogen storage disease type 1a
  • Glycogen storage disease type 1b
  • Granulocyte colony-stimulating factor
  • Metabolic control

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

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