Skeletal health in adult patients with classic galactosemia

Batey, L. A.; Welt, Corrine K.; Rohr, Frances J.; Wessel, Ann; Anastasoaie, Vera; Feldman, Henry A.; Guo, Chao-Yu; Rubio‐Gozalbo, Estela; Berry, Gerard T.; Gordon, Catherine M.

doi:10.1007/s00198-012-1983-0

Cited by 30 publications

(24 citation statements)

References 23 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%

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%

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

et al. 2016

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“…The first report of an association between CG and decreased bone mass dates back to 1993 (Kaufman et al 1993) and a bone mineral density (BMD) Z-score more than two standard deviations (SD) below the mean was found in 25-30% of adult patients (Waisbren et al 2012;Batey et al 2013). Thorough evaluation of the frequency and severity of impaired bone health in CG patients, compared to the non-galactosemia population, is crucial for determining its extent and relevance for patient care.…”

Section: Introductionmentioning

confidence: 99%

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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“…Recently, it has been shown that body weight and body mass index (BMI) correlate with bone mass in patients with classic galactosemia, emphasizing the need for monitoring caloric intake in this group (Batey et al 2013). Evaluation of food records or food frequency questionnaires, preferably by a nutritionist, can be used to determine a patient's general nutrition status and to assess the completeness of a patient's diet.…”

Section: Dietary Evaluation and Bone Metabolism Markersmentioning

confidence: 98%

“…Decreased bone mass is frequently encountered in classic galactosemia (OMIM 230400), an inborn error of galactose metabolism (Kaufman et al 1993;Rubio-Gozalbo et al 2002;Panis et al 2004;Jumbo-Lucioni et al 2012;Waisbren et al 2012;Batey et al 2013;Coss et al 2013). This decrease in bone mass is most prominent in adults, but is already seen in prepubertal children (Kaufman et al 1993;Rubio-Gozalbo et al 2002;Panis et al 2004).…”

Section: Introductionmentioning

confidence: 99%

“…The average reported bone mineral density (BMD) as assessed by dual-energy X-ray absorptiometry (DXA) in adults with galactosemia is more than one standard deviation (SD) below the mean, and even about 25-30% of patients have a BMD more than 2 SD below the mean (Waisbren et al 2012;Batey et al 2013), whereas in pediatric patients with galactosemia, the average is between 0 and À1 SD (Rubio-Gozalbo et al 2002;Panis et al 2004). Fracture rates in adult patients with classic galactosemia have been reported between 31 and 63% (Waisbren et al 2012;Batey et al 2013), which is slightly higher than in the general population in which rates between 21 and 53% have been reported for this age category (van Staa et al 2001). Only one study addresses the fracture rates in pediatric patients (Waisbren et al 2012), and the reported prevalence of 18% is not higher than in the healthy pediatric population (Landin 1997).…”

Section: Introductionmentioning

confidence: 99%

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Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia

2014

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Decreased bone mass is frequently encountered in classic galactosemia, an inborn error of galactose metabolism. This decrease is most prominent in adults, but is already seen in prepubertal children with increased risk of osteoporosis and fractures later in life. Therefore, bone health in patients with classic galactosemia is increasingly monitored. Although the pathophysiological mechanism is still not fully understood, several factors could negatively affect bone metabolism in this disease. Patients are at risk of nutritional deficiencies due to the galactose-restricted diet. Primary ovarian insufficiency (POI) in female patients also contributes to decreased bone mass. Furthermore, patients with classic galactosemia might be less physically active due to motor or neurological impairments. A disease-specific intrinsic abnormality has been suggested as well. This revised proposal is an update of the 2007 recommendations. In this current approach, we advise comprehensive dietary evaluation, optimization of calcium intake if needed, monitoring and if necessary supplementation of vitamin D, hormonal status evaluation and hormone replacement therapy (HRT) consideration, as well as a regular exercise and assessment of skeletal deformities and clinically significant fractures. We propose bone mineral density (BMD) assessment by serial DXA scans of the lumbar spine, femoral neck, and total hip in adults and lumbar spine and total body less head (TBLH) in children.

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Skeletal health in adult patients with classic galactosemia

Abstract: Bone density in adults with galactosemia is low, indicating the potential for increased fracture risk, the etiology of which appears to be multifactorial.

Cited by 30 publications

References 23 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

Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia

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