Bone metabolism in galactosemia

Panis, Bianca; Forget, Patricia; Kroonenburgh, M.J.P.G. van; Vermeer, Cees; Menheere, P. P. C. A.; Nieman, Fred; Rubio‐Gozalbo, M. Estela

doi:10.1016/j.bone.2004.06.004

Cited by 53 publications

(76 citation statements)

References 39 publications

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“…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).…”

Section: Congenital Disorders Of Glycosylationmentioning

confidence: 99%

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

et al. 2016

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Classical galactosaemia is a rare disorder of carbohydrate metabolism caused by galactose-1-phosphate uridyltransferase (GALT) deficiency (EC 2.7.7.12). The disease is life threatening if left untreated in neonates and the only available treatment option is a long-term galactose restricted diet. While this is lifesaving in the neonate, complications persist in treated individuals, and the cause of these, despite early initiation of treatment, and shared GALT genotypes remain poorly understood. Systemic abnormal glycosylation has been proposed to contribute substantially to the ongoing pathophysiology. The gross N-glycosylation assembly defects observed in the untreated neonate correct over time with treatment. However, N-glycosylation processing defects persist in treated children and adults.Congenital disorders of glycosylation (CDG) are a large group of over 100 inherited disorders affecting largely N-and O-glycosylation.In this review, we compare the clinical features observed in galactosaemia with a number of predominant CDG conditions.We also summarize the N-glycosylation abnormalities, which we have described in galactosaemia adult and paediatric patients, using an automated high-throughput HILIC-UPLC analysis of galactose incorporation into serum IgG with analysis of the corresponding N-glycan gene expression patterns and the affected pathways.

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Section: Congenital Disorders Of Glycosylationmentioning

confidence: 99%

“…Reduced levels of insulin-like growth factor 1 (IGF-1), carboxylated osteocalcin, N-terminal telopeptide and Cterminal telopeptide have been reported in serum samples from galactosaemia patients (Panis et al 2004;FridovichKeil and Walter 2008).…”

Section: Congenital Disorders Of Glycosylationmentioning

confidence: 99%

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

et al. 2016

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“…Only one of these studies reported all data required for inclusion (Panis et al 2004); the authors of the other seven studies were contacted for additional information. Three authors provided the required data at request (Waisbren et al 2012;Tan et al 2014;Doulgeraki et al 2014) (Supplementary data S3, Data collection process).…”

Section: Study Selectionmentioning

confidence: 99%

“…Four studies (three cross-sectional studies and one retrospective case series) were included in this meta-analysis of BMD Z-score (Panis et al 2004;Waisbren et al 2012;Tan et al 2014;Doulgeraki et al 2014). Panis et al (2004) assessed 40 patients with a mean age of 8.9 years (range 3.0-17.3).…”

Section: Meta-analysis On Bmd In Classic Galactosemia Patientsmentioning

confidence: 99%

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

et al. 2016

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Introduction: Previous studies have reported an association between classic galactosemia (CG) and decreased bone mass. The primary objective of this systematic review with meta-analysis was to determine the extent of bone mineral density (BMD) Z-score reduction. Low BMD was defined as a Z-score À2 standard deviations (SD). The secondary objective was to evaluate other indicators of bone status through a descriptive analysis.Methods: Systematic search strategies were developed by an experienced clinical librarian. Selection of relevant manuscripts, risk of bias assessment, and data extraction were performed independently by two investigators.Results: Four studies were included in the meta-analysis. BMD Z-scores in children and adults with CG measured at the lumbar spine (LBMD; 4 studies; n ¼ 112), total hip (HBMD; 2 studies; n ¼ 58), and femoral neck (FBMD; 2 studies; n ¼ 73) were assessed. Mean BMD Z-scores in the CG population were LBMD À0.70 (95% CI: À0.88, À0.52); HBMD À0.89 (95% CI: À1.14, À0.64); and FBMD À0.63 (95% CI À1.29, 0.02). Results from studies included in the descriptive analysis (n ¼ 7) show that vitamin D levels were frequently in the low reference range, whereas serum calcium levels were within reference range.Communicated by: Alberto B. Burlina, MDThe authors "Britt van Erven" and "Lindsey Welling" are equal first authors.The authors "M. Estela Rubio-Gozalbo" and "Annet M. Bosch" are equal first authors. Electronic supplementary material:The online version of this chapter

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Disorders of Carbohydrate Metabolism

Dixon¹,

MacDonald²

2007

Clinical Paediatric Dietetics

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Bone metabolism in galactosemia

Cited by 53 publications

References 39 publications

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

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

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

Disorders of Carbohydrate Metabolism

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