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

@article{Chen2010AdenylosuccinateLD,
  title={Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations},
  author={Bee Chin Chen and Ivan Mcgown and Meow Keong Thong and James Pitt and Zabedah Md Yunus and Teck Beng Khoo and Lock Hock Ngu and J. Duley},
  journal={Journal of Inherited Metabolic Disease},
  year={2010},
  volume={33},
  pages={159-162}
}
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 patients with clinical features of psychomotor retardation, global developmental delay, seizures, microcephaly and/or autistic behaviour. The patient presented with frequent convulsions and severe… CONTINUE READING