title: Living situation, occupation and health-related quality of life in adult patients with classic galactosemia.
abstract: BACKGROUND
  Galactose-1-phosphate uridyltransferase deficiency is well known as the underlying defect in classic galactosemia. However, little is known about the consequences of this defect beyond physical disease.
  
  
  OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany. mail@kinderarzt-hoffmann.de
authors.forename: Björn
authors.initials: B
authors.lastname: Hoffmann
authors.forename: Nico
authors.initials: N
authors.lastname: Dragano
authors.forename: Susanne
authors.initials: S
authors.lastname: Schweitzer-Krantz
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D004522:Educational Status; D005260:Female; D005693:Galactosemias / Q000523:psychology*; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D009790:Occupations; D010661:Phenylketonurias / Q000523:psychology; D011584:Psychology; D011788:Quality of Life; D012111:Residence Characteristics; D011795:Surveys and Questionnaires; D055815:Young Adult