Journal article
The adult galactosemic phenotype
Journal of inherited metabolic disease, Vol.35(2), pp.279-286
03/2012
Handle:
https://hdl.handle.net/2376/114289
PMCID: PMC3641771
PMID: 21779791
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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Details
- Title
- The adult galactosemic phenotype
- Creators
- Susan E Waisbren - Children's Hospital BostonNancy L Potter - Washington State UniversityRoberta Jackson - Eastern Washington UniversityMichael Murray - Brigham and Women's HospitalCatherine M Gordon - Children's Hospital BostonRobert C Green - Boston University School of MedicineLeslie Power - Washington State UniversityPatricia Greenstein - Beth Israel Deaconess Medical CenterCynthia S Gubbels - Maastricht University Medical CenterEstela Rubio‐Gozalbo - Maastricht University Medical CenterDonald Schomer - Beth Israel Deaconess Medical CenterCorrine Welt - Massachusetts General HospitalVera Anastasoaie - Children's Hospital BostonKali D'Anna - Children's Hospital BostonJennifer Gentile - Children's Hospital BostonChao‐Yu Guo - Children's Hospital BostonLeah Hecht - Children's Hospital BostonBernadette M Jansma - Maastricht UniversityYijun Li - Children's Hospital BostonVa Lip - Children's Hospital BostonDavid T Miller - Children's Hospital BostonNicolle Quinn - Children's Hospital BostonFrances Rohr - Children's Hospital BostonYiping Shen - Children's Hospital BostonAmy Skinder‐Meredith - Washington State UniversityInge Timmers - Maastricht University Medical CenterRachel Tunick - Children's Hospital BostonAnn Wessel - Children's Hospital BostonBai‐Lin Wu - Children's Hospital BostonHarvey Levy - Children's Hospital BostonLouis Elsas - University of MiamiGerard T Berry - Harvard Medical School, The Manton Center for Orphan Disease Research, Children's Hospital Boston
- Publication Details
- Journal of inherited metabolic disease, Vol.35(2), pp.279-286
- Academic Unit
- Medical Education and Clinical Science, Department of; Speech and Hearing Sciences, Department of
- Publisher
- Springer Netherlands; Dordrecht
- Number of pages
- 8
- Identifiers
- 99900548056001842
- Language
- English
- Resource Type
- Journal article