Premium
Looking forward—An evidence‐based approach to glutaryl‐CoA dehydrogenase deficiency
Author(s) -
KÖlker S.,
Burgard P.,
Okun J. G.,
SchulzeBergkamen A.,
Assmann B.,
Greenberg C. R.,
Hoffmann G. F.
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.0000045778.73581.7d
Subject(s) - medicine , intensive care medicine , pediatrics , etiology , pathology
Summary : Three decades after the first description of glutaryl‐CoA dehydrogenase deficiency, major progress has been achieved in the prevention of acute striatal necrosis and neurological sequelae in affected children, if diagnosis is made early and treatment is started before manifestation of acute encephalopathic crises. However, all concepts for diagnostic work‐up, monitoring, and treatment are solely experience‐based, and 10–35% of early‐diagnosed children do not or only incompletely benefit from the current management. They still develop neurological deterioriation and sequelae despite early implementation of dietary treatment, carnitine supplementation and emergency treatment during acute intercurrent illnesses. International efforts should be made to move management of affected children from experience‐based to evidence‐based medicine. Major tools for this optimization are the establishment of an international patients' database, the implementation of an international prospective clinical study, and the development of international guidelines for diagnostic work‐up, monitoring and therapy.