Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations

• Main Authors: Chen, B.C., McGown, I.N., Thong, M.K., Pitt, J., Yunus, Z.M., Khoo, T.B., Ngu, L.H., Duley, J.A.
• Format: Article
• Published: Kluwer (now part of Springer) 2010
• Subjects: R Medicine
• Online Access: http://eprints.um.edu.my/11878/
• Institution: Universiti Malaya

Most cases of adenylosuccinate lyase (ADSL OMIM 103050) deficiency reported to date are confined to the various European ethnic groups. We report on the first Malaysian case of ADSL deficiency, which appears also to be the first reported Asian case. The case was diagnosed among a cohort of 450 patie...