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J Inherit Metab Dis. 2012 Nov;35(6):1031-6. doi: 10.1007/s10545-012-9466-1. Epub 2012 Mar 9.

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

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1
Clinical and Molecular Genetics Unit, Institute of Child Health, University College London with Great Ormond Street Hospital for Children NHS Trust, London, WC1N 1EH, UK. p.mills@ucl.ac.uk

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.

PMID:
22403017
DOI:
10.1007/s10545-012-9466-1
[Indexed for MEDLINE]
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