High prevalence of fractures in glycogen storage disease type I (GSD-I) R.M. van der Ende, D.H. Martens, G.P.A. Smit, T.G.J. Derks, E. van der Veer Rixt.

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High prevalence of fractures in glycogen storage disease type I (GSD-I) R.M. van der Ende, D.H. Martens, G.P.A. Smit, T.G.J. Derks, E. van der Veer Rixt van der Ende r.m.van.der.ende@umcg.nl Section of Metabolic Diseases, Beatrix Children’s Hospital and Laboratory of Metabolic Diseases, Department of Laboratory Medicine UMC Groningen, The Netherlands June 4th 2015 Rixt van der Ende, June 4th 2015

INTRODUCTION Glycogen storage disease 1 (GSD-1)1 Inherited inborn error of metabolism Deficiency of glucose-6-phosphatase Inadequate conversion of glucose-6-phosphate into glucose (glycogenolysis and gluconeogenesis) Fasting intolerance (hypoglycemia), failure to thrive and hepatomegaly Rixt van der Ende, June 4th 2015 1 Bali DS et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2013 Sep 19]. GeneReviews® [Internet].

INTRODUCTION Osteopenia is a well-recognized complication in GSD-I2,3 Multifactorial pathophysiology Previous cohort studies did not include bone fractures Rixt van der Ende, June 4th 2015 2Minarich LA et al. (2012). Bone mineral density in glycogen storage disease type Ia and Ib. Genet Med. 3 Rake JP et al. (2003). Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study. J Inherit Metab Dis .

RESEARCH QUESTION What is the prevalence of bone fractures, related to bone mass density (BMD) and bone turnover markers (BTM)? Hypothesis: GSD-I patients with fractures have lower BMD and BTM values Rixt van der Ende, June 4th 2015

MATERIALS AND METHODS Single center retrospective cohort study 59 GSD-I patients, mean age 28.8 years Questionnaire about life-time fractures BMD assessment of radius, femur and lumbar spine BTM (osteocalcin, PINP, sCTX) measurement Z-scores Rixt van der Ende, June 4th 2015

RESULTS Response rate: 36 (61%) patients returned the questionnaire Fourteen (39%) had had one or more fractures Rixt van der Ende, June 4th 2015

RESULTS Mean Z-scores BMD Radius = -1.60 (±0.32) Femur = -1.20 (±0.18) Lumbar spine = -1.60 (±0.24) Mean Z-scores BTM Osteocalcin = -0.98 (±0.21) PINP = -0.39 (-2.44-6.38) sCTX = -0.76 (±0.16) BTM Z-scores did not differ significantly between patients with and patients with no life-time fractures Rixt van der Ende, June 4th 2015

RESULTS: Z-score radius No fractures = -0.58 (±0.34) Fractures = -1.95 (-4.90--1,00) P = 0.013 Rixt van der Ende, June 4th 2015

RESULTS: Z-score femur No fractures = -0.83 (±0.22) Fractures = -1.40 (±0.31) P = 0.061 Rixt van der Ende, June 4th 2015

RESULTS: Z-score lumbar spine No fractures = -0.65 (-3.30-0.00) Fractures = -1.76 (±0.36) P = 0.059 Rixt van der Ende, June 4th 2015

CONCLUSION High prevalence of life-time fractures in GSD-I patients GSD-I patients with life time fractures: Significantly lower radius BMD Z-score Suggestion of lower femur and lumbar spine BMD Z-score Close monitoring of BMD during follow up! Rixt van der Ende, June 4th 2015

DISCUSSION Sample size BMD influences Age (puberty) Gender Physical activity Intoxications (smoking and alcohol) Vitamin D status Rixt van der Ende, June 4th 2015

FUTURE PROSPECTIVES Association between bone fractures and metabolic control? Supplementary vitamin D or treatment bisphosphonates in GSD-I patients International registry Patients from different GSD expertise centra Rixt van der Ende, June 4th 2015

QUESTIONS? Rixt van der Ende, June 4th 2015