Published in:
01-11-2012 | Original Article
Living situation, occupation and health-related quality of life in adult patients with classic galactosemia
Published in: Journal of Inherited Metabolic Disease | Issue 6/2012
Login to get accessAbstract
Background
Galactose-1-phosphate uridyltransferase deficicency is well known as the underlying defect in classic galactosemia. However, little is known about the consequences of this defect beyond physical disease. Aim: 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.
Discussion
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.