Original Article

Journal of Inherited Metabolic Disease

, Volume 35, Issue 2, pp 279-286

First online:

The adult galactosemic phenotype

  • Susan E. WaisbrenAffiliated withChildren’s Hospital Boston Email author 
  • , Nancy L. PotterAffiliated withWashington State University
  • , Catherine M. GordonAffiliated withChildren’s Hospital Boston
  • , Robert C. GreenAffiliated withBoston University School of Medicine
  • , Patricia GreensteinAffiliated withBeth Israel Deaconess Medical Center
  • , Cynthia S. GubbelsAffiliated withMaastricht University Medical Center
  • , Estela Rubio-GozalboAffiliated withMaastricht University Medical Center
  • , Donald SchomerAffiliated withBeth Israel Deaconess Medical Center
  • , Corrine WeltAffiliated withMassachusetts General Hospital
    • , Vera AnastasoaieAffiliated withChildren’s Hospital Boston
    • , Kali D’AnnaAffiliated withChildren’s Hospital Boston
    • , Jennifer GentileAffiliated withChildren’s Hospital Boston
    • , Chao-Yu GuoAffiliated withChildren’s Hospital Boston
    • , Leah HechtAffiliated withChildren’s Hospital Boston
    • , Roberta JacksonAffiliated withEastern Washington University
    • , Bernadette M. JansmaAffiliated withMaastricht University
    • , Yijun LiAffiliated withChildren’s Hospital Boston
    • , Va LipAffiliated withChildren’s Hospital Boston
    • , David T. MillerAffiliated withChildren’s Hospital Boston
    • , Michael MurrayAffiliated withBrigham and Women’s Hospital
    • , Leslie PowerAffiliated withWashington State University
    • , Nicolle QuinnAffiliated withChildren’s Hospital Boston
    • , Frances RohrAffiliated withChildren’s Hospital Boston
    • , Yiping ShenAffiliated withChildren’s Hospital Boston
    • , Amy Skinder-MeredithAffiliated withWashington State University
    • , Inge TimmersAffiliated withMaastricht University Medical Center
    • , Rachel TunickAffiliated withChildren’s Hospital Boston
    • , Ann WesselAffiliated withChildren’s Hospital Boston
    • , Bai-Lin WuAffiliated withChildren’s Hospital Boston
    • , Harvey LevyAffiliated withChildren’s Hospital Boston
    • , Louis ElsasAffiliated withUniversity of Miami
    • , Gerard T. BerryAffiliated withHarvard Medical School, The Manton Center for Orphan Disease Research, Children’s Hospital Boston

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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.


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.


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.


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.