Björn Hoffmann1, Nico Dragano, Susanne Schweitzer-Krantz. 1. Department of General Pediatrics, University Children's Hospital, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany. mail@kinderarzt-hoffmann.de
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. 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.
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. 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.
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