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Journal of Inherited Metabolic Disease

Erschienen in:

01.11.2012 | Original Article

Living situation, occupation and health-related quality of life in adult patients with classic galactosemia

verfasst von: Björn Hoffmann, Nico Dragano, Susanne Schweitzer-Krantz

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 6/2012

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Abstract

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.

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Titel: Living situation, occupation and health-related quality of life in adult patients with classic galactosemia
verfasst von: Björn Hoffmann
Nico Dragano
Susanne Schweitzer-Krantz
Publikationsdatum: 01.11.2012
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 6/2012
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-012-9469-y

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