Journal of Inherited Metabolic Disease

, Volume 35, Issue 2, pp 279–286 | Cite as

The adult galactosemic phenotype

  • Susan E. Waisbren
  • Nancy L. Potter
  • Catherine M. Gordon
  • Robert C. Green
  • Patricia Greenstein
  • Cynthia S. Gubbels
  • Estela Rubio-Gozalbo
  • Donald Schomer
  • Corrine Welt
  • Vera Anastasoaie
  • Kali D’Anna
  • Jennifer Gentile
  • Chao-Yu Guo
  • Leah Hecht
  • Roberta Jackson
  • Bernadette M. Jansma
  • Yijun Li
  • Va Lip
  • David T. Miller
  • Michael Murray
  • Leslie Power
  • Nicolle Quinn
  • Frances Rohr
  • Yiping Shen
  • Amy Skinder-Meredith
  • Inge Timmers
  • Rachel Tunick
  • Ann Wessel
  • Bai-Lin Wu
  • Harvey Levy
  • Louis Elsas
  • Gerard T. Berry
Original Article

Abstract

Background

Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Newborn screening and early treatment do not completely prevent tremor, speech deficits, and diminished IQ in both sexes and premature ovarian insufficiency (POI) in women. Data on how individuals with galactosemia fare as adults will improve our ability to predict disease progression.

Methods

Thirty-three adults (mean age = 32.6 ± 11.7 years; range = 18–59) with classic galactosemia, confirmed by genotype and undetectable GALT enzyme activity, were evaluated. Analyses assessed associations among age, genotype, clinical features and laboratory measures.

Results

The sample included 17 men and 16 women. Subjects exhibited cataracts (21%), low bone density (24%), tremor (46%), ataxia (15%), dysarthria (24%), and apraxia of speech (9%). Subjects reported depression (39%) and anxiety (67%). Mean full scale IQ was 88 ± 20, (range = 55–122). All subjects followed a dairy-free diet and 75–80% reported low intake of calcium and vitamin D. Mean height, weight and body mass were within established norms. All female subjects had been diagnosed with POI. One woman and two men had had children. Logistic regression analyses revealed no associations between age, genotype or gender with IQ, tremor, ataxia, dysarthria, apraxia of speech or anxiety. Each 10- year increment of age was associated with a twofold increase in odds of depression.

Conclusions

Taken together, these data do not support the hypothesis that galactosemia is a progressive neurodegenerative disease. However, greater attention to depression, anxiety, and social relationships may relieve the impact of this disorder in adults.

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Copyright information

© SSIEM and Springer 2011

Authors and Affiliations

  • Susan E. Waisbren
    • 1
  • Nancy L. Potter
    • 2
  • Catherine M. Gordon
    • 1
  • Robert C. Green
    • 3
  • Patricia Greenstein
    • 4
  • Cynthia S. Gubbels
    • 5
  • Estela Rubio-Gozalbo
    • 5
  • Donald Schomer
    • 4
  • Corrine Welt
    • 6
  • Vera Anastasoaie
    • 1
  • Kali D’Anna
    • 1
  • Jennifer Gentile
    • 1
  • Chao-Yu Guo
    • 1
  • Leah Hecht
    • 1
  • Roberta Jackson
    • 7
  • Bernadette M. Jansma
    • 8
  • Yijun Li
    • 1
  • Va Lip
    • 1
  • David T. Miller
    • 1
  • Michael Murray
    • 9
  • Leslie Power
    • 2
  • Nicolle Quinn
    • 1
  • Frances Rohr
    • 1
  • Yiping Shen
    • 1
  • Amy Skinder-Meredith
    • 2
  • Inge Timmers
    • 5
  • Rachel Tunick
    • 1
  • Ann Wessel
    • 1
  • Bai-Lin Wu
    • 1
  • Harvey Levy
    • 1
  • Louis Elsas
    • 10
  • Gerard T. Berry
    • 11
  1. 1.Children’s Hospital BostonBostonUSA
  2. 2.Washington State UniversityPullmanUSA
  3. 3.Boston University School of MedicineBostonUSA
  4. 4.Beth Israel Deaconess Medical CenterBostonUSA
  5. 5.Maastricht University Medical CenterMaastrichtNetherlands
  6. 6.Massachusetts General HospitalBostonUSA
  7. 7.Eastern Washington UniversitySeattleUSA
  8. 8.Maastricht UniversityMaastrichtNetherlands
  9. 9.Brigham and Women’s HospitalBostonUSA
  10. 10.University of MiamiCoral GablesUSA
  11. 11.Harvard Medical School, The Manton Center for Orphan Disease Research, Children’s Hospital BostonBostonUSA

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