Tags

Type your tag names separated by a space and hit enter

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.
Horm Res Paediatr. 2014; 81(1):55-62.HR

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.

Authors+Show Affiliations

Dipartimenti di Pediatria, Università Federico II, Napoli, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Multicenter Study

Language

eng

PubMed ID

24401800

Citation

Melis, D, et al. "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." Hormone Research in Paediatrics, vol. 81, no. 1, 2014, pp. 55-62.
Melis D, Pivonello R, Cozzolino M, et al. 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. Horm Res Paediatr. 2014;81(1):55-62.
Melis, D., Pivonello, R., Cozzolino, M., Della Casa, R., Balivo, F., Del Puente, A., Dionisi-Vici, C., Cotugno, G., Zuppaldi, C., Rigoldi, M., Parini, R., Colao, A., Andria, G., & Parenti, G. (2014). 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. Hormone Research in Paediatrics, 81(1), 55-62. https://doi.org/10.1159/000351022
Melis D, et al. 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. Horm Res Paediatr. 2014;81(1):55-62. PubMed PMID: 24401800.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Melis,D, AU - Pivonello,R, AU - Cozzolino,M, AU - Della Casa,R, AU - Balivo,F, AU - Del Puente,A, AU - Dionisi-Vici,C, AU - Cotugno,G, AU - Zuppaldi,C, AU - Rigoldi,M, AU - Parini,R, AU - Colao,A, AU - Andria,G, AU - Parenti,G, Y1 - 2013/12/21/ PY - 2012/12/26/received PY - 2013/03/27/accepted PY - 2014/1/10/entrez PY - 2014/1/10/pubmed PY - 2015/1/13/medline SP - 55 EP - 62 JF - Hormone research in paediatrics JO - Horm Res Paediatr VL - 81 IS - 1 N2 - 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. SN - 1663-2826 UR - https://www.unboundmedicine.com/medline/citation/24401800/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_ L2 - https://www.karger.com?DOI=10.1159/000351022 DB - PRIME DP - Unbound Medicine ER -