Premium
Social outcome in treated individuals with inherited metabolic disorders: UK study
Author(s) -
Bhat M.,
Haase C.,
Lee P. J.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0159-x
Subject(s) - homocystinuria , medicine , pediatrics , outcome (game theory) , metabolic disease , genetics , biology , mathematics , mathematical economics , amino acid , methionine
Summary Few data exist on the long‐term social outcome of patients with inherited metabolic disorders, despite the fact that increasing numbers are surviving into adulthood. Here we report the findings of 329 patients aged from 11 to 70 years, of whom 172 had phenylketonuria, 38 had homocystinuria and 33 had galactosaemia. Twenty‐eight per cent had no formal education qualifications, 59% were employed, but only 17% were in professional jobs (social classes I and II). The time of diagnosis and treatment had a significant impact on outcome in phenylketonuria, as did pyridoxine responsiveness or lack of it in homocystinuria. Effects on outcome in galactosaemia were not clear. Social integration is an important outcome of treatment of chronic disorders in childhood and warrants further study in this growing patient population.