Journal of Inherited Metabolic Disease

, Volume 35, Issue 6, pp 1031–1036

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
Original Article

DOI: 10.1007/s10545-012-9466-1

Cite this article as:
Mills, P.B., Footitt, E.J., Ceyhan, S. et al. J Inherit Metab Dis (2012) 35: 1031. doi:10.1007/s10545-012-9466-1

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.

Copyright information

© SSIEM and Springer 2012

Authors and Affiliations

  • Philippa B. Mills
    • 1
  • Emma J. Footitt
    • 1
  • Serkan Ceyhan
    • 2
  • Paula J. Waters
    • 3
  • Cornelis Jakobs
    • 2
  • Peter T. Clayton
    • 1
  • Eduard A. Struys
    • 2
  1. 1.Clinical and Molecular Genetics Unit, Institute of Child HealthUniversity College London with Great Ormond Street Hospital for Children NHS TrustLondonUK
  2. 2.VU University Medical CentreAmsterdamThe Netherlands
  3. 3.Service de Génétique MédicaleUniversité de SherbrookeQuébecCanada