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

作者：Mills Philippa B^*; Footitt Emma J; Ceyhan Serkan; Waters Paula J; Jakobs Cornelis; Clayton Peter T; Struys Eduard A

来源：Journal of Inherited Metabolic Disease, 2012, 35(6): 1031-1036.

DOI：10.1007/s10545-012-9466-1

Analysis of alpha-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 alpha-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 alpha-aminoadipic semialdehyde dehydrogenase in vitro.

• 出版日期2012-11