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Journal of Inherited Metabolic Disease

, Volume 35, Issue 6, pp 1051–1058 | Cite as

Living situation, occupation and health-related quality of life in adult patients with classic galactosemia

  • Björn Hoffmann
  • Nico Dragano
  • Susanne Schweitzer-Krantz
Original Article

Abstract

Background

Galactose-1-phosphate uridyltransferase deficicency is well known as the underlying defect in classic galactosemia. However, little is known about the consequences of this defect beyond physical disease. Aim: To evaluate psychosocial, educational and occupational outcome as well as health-related quality of life (HRQOL) in adult German patients with galactosemia and to compare information with data from patients with phenylketonuria as well as the general German population.

Methods

Members of the German patient support group for galactosemia received invitation, informed consent form and questionnaires by regular mail from the patient support group. Participation was voluntary.

Results

Forty-one out of 66 invited patients participated in this study. Nearly 2/3 of the patients were singles, and the majority of patients were still living with their parents. Frequently, patients had no school leaving certificate, and 30% of the patients had never started or never completed an apprenticeship. Getting along with galactosemia was rated as ‘very good’ or ‘good’ although following the diet was a burden. Social well-being and social functioning was lower compared to patients with PKU.

Discussion

Patients with galactosemia need a multi-professional team not only focusing on physical and/or biochemical aspects of disease but including also psycho-social dimensions of life.

Keywords

Positive Mood Professional Training Phenylketonuria Galactosemia Patient Support Group 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgement

We are indebted to the patients with galactosemia who participated in this study and we appreciated the support of the German patient support group for galactosemia.

Funding

This study was supported by an unrestricted research grant of the Sanitätsrat Dr. Emil Alexander Huebner und Gemahlin-Stiftung. The sponsor had no role in the interpretation of data or writing of this report.

Supplementary material

10545_2012_9469_MOESM1_ESM.doc (22 kb)
ESM 1 (DOC 22 kb)

References

  1. Bosch AM, Bakker HD, Wenniger-Prick LJ, Wanders RJ, Wijburg FA (2004a) High tolerance for oral galactose in classical galactosaemia: dietary implications. Arch Dis Child 89(11):1034–1036PubMedCrossRefGoogle Scholar
  2. Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF (2004b) Living with classical galactosemia: health-related quality of life consequences. Pediatrics 113(5):e423–e428PubMedCrossRefGoogle Scholar
  3. Bosch AM, Maurice-Stam H, Wijburg FA, Grootenhuis MA (2009) Remarkable differences: the course of life of young adults with galactosaemia and PKU. J Inherit Metab Dis 32(6):706–712PubMedCrossRefGoogle Scholar
  4. Burgard P, Schmidt E, Rupp A, Schneider W, Bremer HJ (1996) Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 155(Suppl 1):S33–S38PubMedCrossRefGoogle Scholar
  5. Gubbels CS, Maurice-Stam H, Berry GT et al (2011) Psychosocial developmental milestones in men with classic galactosemia. J Inherit Metab Dis 34(2):415–419PubMedCrossRefGoogle Scholar
  6. Hoffmann B, Wendel U, Schweitzer-Krantz S (2011) Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia. J Inherit Metab Dis 34(2):421–427PubMedCrossRefGoogle Scholar
  7. Huidekoper HH, Bosch AM, van der Crabben SN, Sauerwein HP, Ackermans MT, Wijburg FA (2005) Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia. Mol Genet Metabol 84(3):265–272CrossRefGoogle Scholar
  8. Huijbregts SC, de Sonneville LM, Licht R, van Spronsen FJ, Sergean JA (2002) Short-term dietary interventions in children and adolescents with treated phenylketonuria: effects on neuropsychological outcome of a well-controlled population. J Inherit Metab Dis 25(6):419–430PubMedCrossRefGoogle Scholar
  9. Kaufman FR, Donnell GN, Roe TF, Kogut MD (1986) Gonadal function in patients with galactosaemia. J Inherit Metab Dis 9(2):140–146PubMedCrossRefGoogle Scholar
  10. Laubach W, Schröder C, Siegrist J, Brähler E (2001) Normierung der Skalen 'Profil der Lebensqualität Chronisch Kranker' an einer repräsentativen deutschen Stichprobe [Standardization of the questionnaire 'Quality of life with chronic disease' on a representative German sample]. Zeitschr Different Diagnost Psychol 2:100–110CrossRefGoogle Scholar
  11. Panis B, Forget PP, van Kroonenburgh MJ et al (2004) Bone metabolism in galactosemia. Bone 35(4):982–987PubMedCrossRefGoogle Scholar
  12. Potter NL, Lazarus JA, Johnson JM, Steine RD, Shriberg LD (2008) Correlates of language impairment in children with galactosaemia. J Inherit Metab Dis 31(4):524–532PubMedCrossRefGoogle Scholar
  13. Rubio-Gozalbo ME, Hamming S, van Kroonenburgh MJ, Bakker JA, Vermeer C, Forget PP (2002) Bone mineral density in patients with classic galactosaemia. Arch Dis Child 87(1):57–60PubMedCrossRefGoogle Scholar
  14. Schadewaldt P, Hoffmann B, Hammen HW, Kamp G, Schweitzer-Krantz S, Wendel U (2010) Longitudinal assessment of intellectual achievement in patients with classical galactosaemia. Pediatrics 125(2):e374–381PubMedCrossRefGoogle Scholar
  15. Schmidt E, Rupp A, Burgard P, Pietz J, Weglage J, de Sonneville L (1994) Sustained attention in adult phenylketonuria: the influence of the concurrent phenylalanine-blood-level. J Clin Experiment Neuropsychol 16(5):681–688CrossRefGoogle Scholar
  16. Schweitzer S, Shin Y, Jakobs C, Brodehl J (1993) Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr 152(1):36–43PubMedCrossRefGoogle Scholar
  17. Shield JP, Wadsworth EJ, MacDonald A et al (2000) The relationship of genotype to cognitive outcome in galactosaemia. Arch Dis Child 83(3):248–250PubMedCrossRefGoogle Scholar
  18. Siegrist J, Broer M, Junge A (1996) Profil der Lebensqualität chronisch Kranker (PLC). Hogrefe, GöttingenGoogle Scholar
  19. Simon E, Schwarz M, Roos J et al (2008) Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes 6:25PubMedCrossRefGoogle Scholar
  20. Suzuki M, West C, Beutler E (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. Hum Genet 109(2):210–215PubMedCrossRefGoogle Scholar
  21. ten Hoedt AE, de Sonneville LM, Francois B et al (2011) High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. J Inherit Metab Dis 34(1):165–171PubMedCrossRefGoogle Scholar
  22. Waisbren SE, Potter NL, Gordon CM et al (2011) The adult galactosemic phenotype. J Inherit Metab D. doi: 10.1007/s10545-011-9372-y

Copyright information

© SSIEM and Springer 2012

Authors and Affiliations

  • Björn Hoffmann
    • 1
    • 2
  • Nico Dragano
    • 3
  • Susanne Schweitzer-Krantz
    • 4
  1. 1.Department of General PediatricsUniversity Children’s Hospital, Heinrich-Heine University DüsseldorfDüsseldorfGermany
  2. 2.Children’s Hospital SiegenSiegenGermany
  3. 3.Institute for Medical Informatics, Biometrics and EpidemiologyUniversity Hospital EssenEssenGermany
  4. 4.Department of PediatricsEvangelisches Krankenhaus DüsseldorfDüsseldorfGermany

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