Journal of Inherited Metabolic Disease 2012-11-01

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

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

Index: J. Inherit. Metab. Dis. 35(6) , 1031-6, (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.