title: 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.
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.
  
  
  OBJECTIVE
  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.
authors.affiliation: Dipartimenti di Pediatria, Università Federico II, Napoli, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Melis
authors.forename: R
authors.initials: R
authors.lastname: Pivonello
authors.forename: M
authors.initials: M
authors.lastname: Cozzolino
authors.forename: R
authors.initials: R
authors.lastname: Della Casa
authors.forename: F
authors.initials: F
authors.lastname: Balivo
authors.forename: A
authors.initials: A
authors.lastname: Del Puente
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: G
authors.initials: G
authors.lastname: Cotugno
authors.forename: C
authors.initials: C
authors.lastname: Zuppaldi
authors.forename: M
authors.initials: M
authors.lastname: Rigoldi
authors.forename: R
authors.initials: R
authors.lastname: Parini
authors.forename: A
authors.initials: A
authors.lastname: Colao
authors.forename: G
authors.initials: G
authors.lastname: Andria
authors.forename: G
authors.initials: G
authors.lastname: Parenti
mesh_terms: D000293:Adolescent; D015519:Bone Density; D001851:Bone Diseases, Metabolic / Q000139:chemically induced* / Q000453:epidemiology / Q000378:metabolism*; D001842:Bone and Bones / Q000378:metabolism*; D016022:Case-Control Studies; D002648:Child; D003430:Cross-Sectional Studies; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000178:diet therapy / Q000188:drug therapy / Q000453:epidemiology / Q000378:metabolism*; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use*; D006130:Growth Disorders / Q000139:chemically induced / Q000453:epidemiology / Q000378:metabolism; D006801:Humans; D008297:Male; D010349:Patient Compliance / Q000706:statistics & numerical data
chemical_list: D016179:Granulocyte Colony-Stimulating Factor