Bone mineralisation in type 1 glycogen storage disease

European Journal of Pediatrics
P J LeeN J Bishop

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. Patients with GSD-1 may be at increased risk of fracture in later life and require close attention to metabolic control and calcium balance.

References

Mar 1, 1979·AJR. American Journal of Roentgenology·J H MillerG F Gates
Jun 1, 1992·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·A Burchell
Jan 1, 1991·Bone and Mineral·J A DePriesterN J Bishop
Jan 1, 1990·Journal of Inherited Metabolic Disease·G P SmitK Ullrich
Aug 1, 1990·Journal of Pediatric Gastroenterology and Nutrition·S W Moses
Jul 1, 1986·The Journal of Pediatrics·T F RoeJ B Atkinson
Jul 1, 1985·American Journal of Diseases of Children·D R AmbrusoJ M Falletta
Jan 1, 1985·Pediatric Pathology·K SoejimaV L Swanson
Nov 1, 1971·American Journal of Physical Anthropology·R B Mazess, J R Cameron
Dec 1, 1969·The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine·L PregerP Pitman
May 1, 1982·European Journal of Pediatrics·D B DungerM A Preece
Jun 23, 1994·The New England Journal of Medicine·J A Kraut, J W Coburn
Jan 1, 1993·Skeletal Radiology·T T MillerJ R Rosh

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Citations

Jan 1, 1995·Journal of Inherited Metabolic Disease·P J Lee, J V Leonard
Dec 11, 2007·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·H MelhusK Michaëlsson
May 22, 2007·Journal of Inherited Metabolic Disease·K BhattacharyaP J Lee
Apr 9, 2008·Journal of Inherited Metabolic Disease·H R MundyM S Fewtrell
Apr 15, 2011·Journal of Inherited Metabolic Disease·Kaustuv Bhattacharya
Apr 7, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Laurie A MinarichDavid A Weinstein
May 24, 2011·Orphanet Journal of Rare Diseases·Roseline FroissartPhilippe Labrune
Jan 12, 2010·Molecular Genetics and Metabolism·Suhrad G BanugariaPriya S Kishnani
Dec 28, 1999·Endocrinology and Metabolism Clinics of North America·J I WolfsdorfD A Weinstein
Feb 9, 2005·The Journal of Craniofacial Surgery·Carmen MortellaroPier Luigi Foglio Bonda
Mar 20, 1998·International Reviews of Immunology·T WaldmannR Bamford
Jan 1, 2003·American Journal of Hematology·R ElhasidA Etzioni
Aug 1, 1998·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·W Carson, M A Caligiuri
Aug 23, 2001·Journal of Pediatric Endocrinology & Metabolism : JPEM·G SaggeseS Bertelloni
Feb 19, 2004·Journal of Inherited Metabolic Disease·J Cabrera-AbreuS Alger
Sep 14, 2018·Reviews in Endocrine & Metabolic Disorders·M Langeveld, C E M Hollak

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