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Maintenance treatment of glutaryl‐CoA dehydrogenase deficiency
Author(s) -
Mühlhausen C.,
Hoffmann G. F.,
Strauss K. A.,
KÖlker S.,
Okun J. G.,
Greenberg C. R.,
Naughten E. R.,
Ullrich K.
Publication year - 2004
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 - 10.1023/b:boli.0000045773.07785.83
Subject(s) - documentation , pharmacotherapy , medicine , disease , intensive care medicine , pediatrics , computer science , programming language
Summary : This paper summarizes the published experience as well as results of the 3rd International Workshop on Glutaryl‐CoA Dehydrogenase Deficiency held in October 2003 in Heidelberg, Germany, on the topic treatment of patients with glutaryl‐CoA dehydrogenase (GCDH) deficiency. So far no international recommendation for treatment of GCDH deficiency exists. Such an approach is hampered by several facts, namely the lack of an in‐depth understanding of the pathophysiology of the disease, the lack of prospective studies, including the evaluation of drug monotherapy, and lack of objective documentation of clinical changes (e.g. video documentation) during pharmacotherapy.