Bone metabolism in galactosemia

B. Panis, Ph. Forget, M.J.P.G. van Kroonenburgh, C. Vermeer, P.P. Menheere, F.H.M. Nieman, M.E. Rubio-Gozalbo*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Bone metabolism in galactosemia.

Panis B, Forget PP, van Kroonenburgh MJ, Vermeer C, Menheere PP, Nieman FH, Rubio-Gozalbo ME.

Department of Pediatrics, Metabolic Diseases, University Hospital Maastricht, 6202 AZ Maastricht, The Netherlands.

Classical galactosemia is an autosomal recessively inherited disorder of galactose metabolism. Treatment consists of life-long dietary restriction of galactose. Despite treatment, long-term complications occur such as a decreased bone mineral density (BMD). A decreased BMD might be the result of either dietary deficiencies secondary to the galactose-restricted diet or unknown intrinsic factors. In this study, 40 children with classical galactosemia (13 males and 27 females, aged 3-17 years) on dietary treatment were included to gain insight in the bone metabolism of galactosemics. We found weight and height Z scores significantly decreased in galactosemics. Mean areal BMD Z scores of lumbar spine and of femoral neck as measured by Dual energy X-ray Absorptiometry (DXA) were -0.6 (P < 0.001) and -0.3 (P = 0.066), respectively. Mean volumetric BMD of the femoral neck was significant lower in galactosemics (P < 0.001). The recommended dietary allowances (RDA) for calcium, magnesium, zinc, vitamin D, and protein were met in all patients. Mean serum levels of calcium, phosphate, magnesium, zinc, 1,25-dihydroxy vitamin D (1,25OHD), parathormone (PTH), 17-beta estradiol, bone alkaline phosphatase (BAP), and under-carboxylated osteocalcin (ucOC) were normal. Serum levels of IGF-1 Z score, carboxylated osteocalcin (cOC), N-terminal telopeptide (NTX), and C-terminal telopeptide (CTX) were significantly lower in galactosemics than in control subjects. The different bone markers were strongly correlated. The low levels of IGF-1 Z score, formation marker cOC, and resorption markers NTX and CTX suggest a decreased bone metabolism in galactosemics.
Original languageEnglish
Pages (from-to)982-987
Number of pages5
Issue number4
Publication statusPublished - 1 Jan 2004

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