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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 2/2008

01-04-2008 | SSIEM Symposium 2007

Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism

Authors: S. Kölker, S. W. Sauer, G. F. Hoffmann, I. Müller, M. A. Morath, J. G. Okun

Published in: Journal of Inherited Metabolic Disease | Issue 2/2008

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Summary

Inherited disorders of amino and organic acid metabolism have a high cumulative frequency, and despite heterogeneous aetiology and varying clinical presentation, the manifestation of neurological disease is common. It has been demonstrated for some of these diseases that accumulating pathological metabolites are directly involved in the manifestation of neurological disease. Various pathomechanisms have been suggested in different in vitro and in vivo models including an impairment of brain energy metabolism, an imbalance of excitatory and inhibitory neurotransmission, altered transport across the blood–brain barrier and between glial cells and neurons, impairment of myelination and disturbed neuronal efflux of metabolic water. This review summarizes recent knowledge on pathomechanisms involved in phenylketonuria, glutaric aciduria type I, succinic semialdehyde dehydrogenase deficiency and aspartoacylase deficiency with examples, highlighting general as well as disease-specific concepts and their putative impact on treatment.
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Metadata
Title
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism
Authors
S. Kölker
S. W. Sauer
G. F. Hoffmann
I. Müller
M. A. Morath
J. G. Okun
Publication date
01-04-2008
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 2/2008
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-008-0823-z

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