title: Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study.
abstract: BACKGROUND
  Classical galactosemia is caused by severe galactose-1-phosphate uridyltransferase deficiency. Despite life-long galactose-restriction, many patients experience long-term complications. Intoxication by galactose and its metabolites as well as over-restriction of galactose may contribute to the pathophysiology. We provided temporary low-dose galactose supplements to patients. We assessed tolerance and potential beneficial effects with clinical monitoring and measurement of biochemical, endocrine, and IgG N-glycosylation profiles.
  
  
  METHODS
  We enrolled 26 patients (8.6 ± 1.9 y). Thirteen were provided with 300 mg of galactose/day followed by 500 mg for 2 wk each (13 patient controls).
  
  
  RESULTS
  We observed no clinical changes with the intervention. Temporary mild increase in galactose-1-phosphate occurred, but renal, liver, and bone biochemistry remained normal. Patients in the supplementation group had slightly higher leptin levels at the end of the study than controls. We identified six individuals as "responders" with an improved glycosylation pattern (decreased G0/G2 ratio, P < 0.05). There was a negative relationship between G0/G2 ratio and leptin receptor sOb-R in the supplementation group (P < 0.05).
  
  
  CONCLUSIONS
  Temporary low-dose galactose supplementation in children over 5 y is well tolerated in the clinical setting. It leads to changes in glycosylation in "responders". We consider IgG N-glycan monitoring to be useful for determining individual optimum galactose intake.
authors.affiliation: National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
authors.forename: Ina
authors.initials: I
authors.lastname: Knerr
authors.affiliation: University College Dublin, Clinical Research Centre, Mater Misericordiae University Hospital, Dublin, Ireland.
authors.forename: Karen Patricia
authors.initials: KP
authors.lastname: Coss
authors.affiliation: Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University of Leipzig, Leipzig, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kratzsch
authors.affiliation: National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
authors.forename: Ellen
authors.initials: E
authors.lastname: Crushell
authors.affiliation: National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
authors.forename: Anne
authors.initials: A
authors.lastname: Clark
authors.affiliation: University College Dublin, Clinical Research Centre, Mater Misericordiae University Hospital, Dublin, Ireland.
authors.forename: Peter
authors.initials: P
authors.lastname: Doran
authors.affiliation: Molecular Genetics and Metabolism Laboratory, Munich, Germany.
authors.forename: Yoon
authors.initials: Y
authors.lastname: Shin
authors.affiliation: The National Institute for Bioprocessing Research and Training, Blackrock, Co., Dublin, Ireland.
authors.forename: Henning
authors.initials: H
authors.lastname: Stöckmann
authors.affiliation: The National Institute for Bioprocessing Research and Training, Blackrock, Co., Dublin, Ireland.
authors.forename: Pauline Mary
authors.initials: PM
authors.lastname: Rudd
authors.affiliation: National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
authors.forename: Eileen
authors.initials: E
authors.lastname: Treacy
mesh_terms: D001842:Bone and Bones / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D019587:Dietary Supplements; D004703:Endocrine System; D005260:Female; D005690:Galactose / Q000008:administration & dosage* / Q000627:therapeutic use; D005693:Galactosemias / Q000188:drug therapy*; D006031:Glycosylation; D057809:HEK293 Cells; D006720:Homozygote; D006801:Humans; D007074:Immunoglobulin G / Q000276:immunology; D007668:Kidney / Q000473:pathology; D007785:Lactose / Q000737:chemistry; D020738:Leptin / Q000097:blood; D008099:Liver / Q000473:pathology; D008297:Male; D009154:Mutation; D010865:Pilot Projects; D054411:Receptors, Leptin / Q000097:blood; D015398:Signal Transduction
chemical_list: D007074:Immunoglobulin G; D020738:Leptin; D054411:Receptors, Leptin; D007785:Lactose; D005690:Galactose