title: The adult galactosemic phenotype.
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.
authors.affiliation: Children's Hospital Boston, Boston, MA, USA. Susan.Waisbren@childrens.harvard.edu
authors.forename: Susan E
authors.initials: SE
authors.lastname: Waisbren
authors.forename: Nancy L
authors.initials: NL
authors.lastname: Potter
authors.forename: Catherine M
authors.initials: CM
authors.lastname: Gordon
authors.forename: Robert C
authors.initials: RC
authors.lastname: Green
authors.forename: Patricia
authors.initials: P
authors.lastname: Greenstein
authors.forename: Cynthia S
authors.initials: CS
authors.lastname: Gubbels
authors.forename: Estela
authors.initials: E
authors.lastname: Rubio-Gozalbo
authors.forename: Donald
authors.initials: D
authors.lastname: Schomer
authors.forename: Corrine
authors.initials: C
authors.lastname: Welt
authors.forename: Vera
authors.initials: V
authors.lastname: Anastasoaie
authors.forename: Kali
authors.initials: K
authors.lastname: D'Anna
authors.forename: Jennifer
authors.initials: J
authors.lastname: Gentile
authors.forename: Chao-Yu
authors.initials: CY
authors.lastname: Guo
authors.forename: Leah
authors.initials: L
authors.lastname: Hecht
authors.forename: Roberta
authors.initials: R
authors.lastname: Jackson
authors.forename: Bernadette M
authors.initials: BM
authors.lastname: Jansma
authors.forename: Yijun
authors.initials: Y
authors.lastname: Li
authors.forename: Va
authors.initials: V
authors.lastname: Lip
authors.forename: David T
authors.initials: DT
authors.lastname: Miller
authors.forename: Michael
authors.initials: M
authors.lastname: Murray
authors.forename: Leslie
authors.initials: L
authors.lastname: Power
authors.forename: Nicolle
authors.initials: N
authors.lastname: Quinn
authors.forename: Frances
authors.initials: F
authors.lastname: Rohr
authors.forename: Yiping
authors.initials: Y
authors.lastname: Shen
authors.forename: Amy
authors.initials: A
authors.lastname: Skinder-Meredith
authors.forename: Inge
authors.initials: I
authors.lastname: Timmers
authors.forename: Rachel
authors.initials: R
authors.lastname: Tunick
authors.forename: Ann
authors.initials: A
authors.lastname: Wessel
authors.forename: Bai-Lin
authors.initials: BL
authors.lastname: Wu
authors.forename: Harvey
authors.initials: H
authors.lastname: Levy
authors.forename: Louis
authors.initials: L
authors.lastname: Elsas
authors.forename: Gerard T
authors.initials: GT
authors.lastname: Berry
mesh_terms: D000293:Adolescent; D000328:Adult; D018450:Disease Progression; D005260:Female; D005693:Galactosemias / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D015997:Neonatal Screening / Q000379:methods; D019636:Neurodegenerative Diseases / Q000201:enzymology / Q000209:etiology / Q000378:metabolism; D010641:Phenotype; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency / Q000235:genetics; D055815:Young Adult
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase