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Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot

Ina Knerr1, Karen Patricia Coss2, Jürgen Kratzsch3

  • 1National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.

Pediatric Research
|June 9, 2015
PubMed

Insights

Temporary low-dose galactose supplementation is safe for children over 5 with classical galactosemia. Monitoring IgG N-glycans can help determine optimal individual galactose intake for responders.

Area of Science:

  • Metabolic disorders
  • Pediatric endocrinology
  • Glycobiology

Background:

  • Classical galactosemia results from galactose-1-phosphate uridyltransferase deficiency.
  • Long-term complications persist despite galactose restriction.
  • Galactose toxicity and over-restriction may impact pathophysiology.

Purpose of the Study:

  • To assess the tolerance and effects of temporary low-dose galactose supplementation in classical galactosemia patients.
  • To evaluate clinical, biochemical, endocrine, and IgG N-glycosylation profiles.

Main Methods:

  • 26 patients (aged 8.6 ± 1.9 years) were enrolled.
  • 13 patients received 300 mg/day galactose, followed by 500 mg/day for 2 weeks.
  • Clinical monitoring and biochemical, endocrine, and IgG N-glycosylation measurements were performed.

Main Results:

  • Supplementation was well-tolerated with no significant clinical changes.
  • Mild increases in galactose-1-phosphate were observed, with normal renal, liver, and bone biochemistry.
  • Responders showed improved IgG N-glycosylation patterns (decreased G0/G2 ratio) and a correlation with leptin receptor levels.

Conclusions:

  • Temporary low-dose galactose supplementation is safe in children over 5 years with classical galactosemia.
  • Individualized galactose intake may be optimized by monitoring IgG N-glycans.
  • Identifying "responders" with altered glycosylation is key for personalized management.
Abstract

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