Bone mineral density in patients with classic galactosaemia

Abstract

Background: Diminished bone mineral density (BMD) is a well known complication in women with classic galactosaemia caused by premature ovarian failure. Diminished BMD in prepubertal patients of either sex has, however, only been reported once. Aim: To assess BMD in children with classic galactosaemia. Methods: Eleven treated patients (five males, six females, aged 2-18 years) had BMD determined by dual energy x ray absorptiometry. Two measurements were performed, an areal measurement of the total body and a volumetric measurement of the femoral neck. Results were expressed as Z scores. Dietary calcium intake, blood calcium, phosphate, vitamin D, parathormone, and markers of bone formation (bone alkaline phosphatase, osteocalcin) and bone resorption (NTX) were determined. Results: All patients had a significantly diminished BMD. Mean Z score of the volumetric BMD was −1.76 (range −0.7 to −3.3), and of the areal BMD −0.99 (range −0.5 to −1.4). Dietary calcium intake and calcium, phosphate, parathormone, bone alkaline phosphatase, vitamin D metabolites, and osteocalcin (free and carboxylated) were normal in all patients. NTX levels in blood were significantly lower (p < 0.001) than in control subjects. Conclusion: BMD in this group of children of both sexes with classic galactosaemia under dietary treatment was decreased. Lower NTX levels in galactosaemics point to an apparent decreased bone resorption.

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

“…In all studies calcium levels were found to be within reference range. Rubio-Gozalbo et al (2002) found no correlation between BMD results and calcium intake in their cohort of children with CG (Rubio-Gozalbo et al 2002).…”

“…Six studies evaluated vitamin D status in CG patients (n ¼ 197) (Rubio-Gozalbo et al 2002;Panis et al 2004;Gajewska et al 2006;Gajewska et al 2008;Sirrs et al 2010;Waisbren et al 2012). One study assessed 1,25-OH-D concentrations only (Panis et al 2004), four measured 25-OH-D only, and one evaluated both (Rubio-Gozalbo et al 2002).…”

“…One study assessed 1,25-OH-D concentrations only (Panis et al 2004), four measured 25-OH-D only, and one evaluated both (Rubio-Gozalbo et al 2002). The studies varied with regard to vitamin D reference ranges and units, and in some the specified range of desired vitamin D concentrations was not stated.…”

“…Four studies with a total of 148 patients assessed serum calcium levels (Rubio-Gozalbo et al 2002;Panis et al 2004;Gajewska et al 2006;Gajewska et al 2008). In all studies calcium levels were found to be within reference range.…”

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

“…Decreased bone mineral density has been consistently observed in galactosaemia patients (Rubio-Gozalbo et al 2002;Panis et al 2004;Waisbren et al 2012;Batey et al 2013;Coss et al 2013;Doulgeraki et al 2014). Decreased bone metabolism has been suggested as the mechanism of reduced bone mineral density in galactosaemia as well as abnormal galactosylation of the collagen matrix (Kaufman et al 1993).…”