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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 6/2012

01-11-2012 | Original Article

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency

Authors: Philippa B. Mills, Emma J. Footitt, Serkan Ceyhan, Paula J. Waters, Cornelis Jakobs, Peter T. Clayton, Eduard A. Struys

Published in: Journal of Inherited Metabolic Disease | Issue 6/2012

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Abstract

Analysis of α-aminoadipic semialdehyde is an important tool in the diagnosis of antiquitin deficiency (pyridoxine-dependent epilepsy). However continuing use of this test has revealed that elevated urinary excretion of α-aminoadipic semialdehyde is not only found in patients with pyridoxine-dependent epilepsy but is also seen in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. This should be taken into account when interpreting the laboratory data. Sulphite was shown to inhibit α-aminoadipic semialdehyde dehydrogenase in vitro.
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Metadata
Title
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
Authors
Philippa B. Mills
Emma J. Footitt
Serkan Ceyhan
Paula J. Waters
Cornelis Jakobs
Peter T. Clayton
Eduard A. Struys
Publication date
01-11-2012
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 6/2012
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-012-9466-1

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