Article
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
Journal of human genetics - 1 Jan 2007
Kurokawa Keiji, Yorifuji Tohru, Kawai Masahiko, Momoi Toru, Nagasaka Hironori, Takayanagi Masaki, Kobayashi Keiko, Yoshino Makoto, Kosho Tomoki, Adachi Masanori, Otsuka Harumi, Yamamoto Shigenori, Murata Toshiaki, Suenaga Akihito, Ishii Tsutomu, Terada Kihei, Shimura Naoto, Kiwaki Kohji, Shintaku Haruo, Yamakawa Masaru, Nakabayashi Hiroki, Wakutani Yosuke, Nakahata Tatsutoshi
Abstract excerpt
Carbamoylphosphate synthetase I deficiency (CPS1D) is a urea-cycle disorder characterized by episodes of life-threatening hyperammonemia. Correct diagnosis is crucial for patient management, but is difficult to make from clinical presentation and conventional laboratory tests alone. Enzymatic or genetic diagnoses have also been hampered by difficult access to the appropriate organ and the large size of the gene...
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