A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene.

@article{Hwu2001ACA,
  title={A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene.},
  author={W. L. Hwu and Kunihiko Kobayashi and Yong Hua Hu and Noriko Yamaguchi and Takeyori Saheki and Shang-shing Peter Chou and Jin Hu Wang},
  journal={Journal of medical genetics},
  year={2001},
  volume={38 7},
  pages={E23}
}
EDITOR—Classical citrullinaemia (CTLN1) is a rare metabolic disease caused by the deficiency of argininosuccinate synthetase (ASS, E.C.6.3.4.5), which usually has its onset in neonates or young infants. These patients may present with acute onset of disturbance of consciousness and hyperammonaemia. ASS activity is very low in all tissues tested and over 30 mutations of the ASS gene have been identified in about 50 CTLN1 patients. However, in Japan, many cases with adult onset type II… CONTINUE READING
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