Autismus und Stoffwechselerkrankungen - was ist gesichert?
Abstract
Zusammenfassung: Die Ursachen für Autismus sind heterogen und ganz überwiegend genetischer Natur. Eine exakte benennbare Ätiologie wird in weniger als 10% der Fälle gefunden. Die Enttäuschung über den geringen Erfolg bei der Ursachenfindung und zahlreiche Berichte über die Assoziation von Autismus mit Stoffwechselerkrankungen sowie über «Wunderheilungen» bei unterschiedlichsten medikamentösen oder diätetischen Therapien haben bei vielen Ärzten und Eltern zu einer zunehmenden Unsicherheit über die sinnvolle Diagnostik und Behandlung geführt. Diese Arbeit gibt einen Überblick über seltene angeborene Stoffwechselerkrankungen («inborn errors of metabolism»), die nachweislich (z.B. Phenylketonurie, Smith-Lemli-Opitz Syndrom) oder wahrscheinlich (z.B. Succinat-Semialdehyd-Dehydrogenase-Mangel) mit Autismus-spezifischen Symptomen vergesellschaftet sind. In aller Regel weisen betroffene Patienten zusätzliche neurologische Symptome auf. Es werden die zur Diagnostik dieser angeborenen Stoffwechselerkrankungen notwendigen Untersuchungen und mögliche therapeutische Maßnahmen dargestellt. Neben diesen gut definierten Stoffwechselerkrankungen mit der Möglichkeit einer rationalen Therapie wird auch auf Hypothesen über die Entstehung von Autismus durch «Stoffwechselveränderungen» eingegangen, die entweder nicht bewiesen oder nachweislich falsch sind.
Summary: The causes of autism are heterogeneous and predominantly genetically determined. An exact aetiology is found in less than 10% of affected patients. The disappointment about low rates of success in identifying a definite pathology, numerous reports about the association of autism and «metabolic derangements», and rumours of «miraculous cures» after application of various drugs and dietary regimes have resulted in substantial confusion about meaningful diagnostic procedures and rational therapies for subjects with autism. The aim of this report is to give an overview about rare, genetically determined neurometabolic disorders (inborn errors of metabolism) that are evidently (e.g. Smith-Lemli-Opitz Syndrome) or allegedly (e.g. succinate semialdehyde dehydrogenase deficiency) associated with autism-specific symptoms. Affected patients usually display additional neurological symptoms. Procedures required to establish the diagnosis and eventual therapeutic consequences derived from a specific metabolic defect are presented. In addition to these well-defined neurometabolic disorders for which there are rational therapeutic strategies, hypotheses about the association of autism with «metabolic derangements» that could not be confirmed or were clearly falsified are discussed.
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