Mutation Report

Novel Mutations (H337R and 238-362del) in the CPS1 Gene Cause Carbamoyl Phosphate Synthetase I Deficiency
Tsutomu Aoshima^a, Mitsuharu Kajita^a, Yoshitaka Sekido^b, Satoshi Kikuchi^c, Izumi Yasuda^d, Takeyori Saheki^d, Kazuyoshi Watanabe^a, Kaoru Shimokata^b, Toshimitsu Niwa<sup>b

a</sup>Department of Pediatrics, Nagoya University School of Medicine and
^bDepartment of Clinical Preventive Medicine, Nagoya University Daiko Medical Center, Nagoya,
^cDepartment of Pediatrics, Biyou Public Hospital, Nagoya,
^dDepartment of Biochemistry I, Kagoshima University School of Medicine, Kagoshima, Japan

Address of Corresponding Author

Hum Hered 2001;52:99-101 (DOI: 10.1159/000053360)

  Key Words

• Mutation
• Carbamoyl phosphate synthetase I deficiency
• Hyperammonemia
• Urea cycle

  References

1.

Miran SG, Chang SH, Raushel FM: Role of the four conserved histidine residues in the amidotransferase domain of carbamoyl phosphate synthetase. Biochemistry 1991;30:7901-7907.

2.

Rubio V: Structure-function studies in carbamoyl phosphate synthetases. Biochem Soc Trans 1993;21:198-202.

  Author Contacts

Toshimitsu Niwa
Department of Clinical Preventive Medicine, Nagoya University Daiko Medical Center
1-1-20 Daiko-minami
Higashi-ku, Nagoya 461-0047 (Japan)
Tel. +81 52 719 1131, Fax +81 52 719 1132, E-Mail tniwa@med.nagoya-u.ac.jp

  Article Information

Received: Received: February 1, 2000
Accepted: August 21, 2000
Revision received: July 21, 2000
Number of Print Pages : 3
Number of Figures : 1, Number of Tables : 0, Number of References : 2

  Publication Details

Human Heredity (International Journal of Human and Medical Genetics)
Founded 1950 as Acta Genetica et Statistica Medica by Gunnar Dahlberg; Continued by M. Hauge (1965-1983)

Vol. 52, No. 2, Year 2001 (Cover Date: Released July 2001)

Journal Editor: J. Ott, New York, N.Y.
ISSN: 0001-5652 (print), 1423-0062 (Online)

For additional information: http://www.karger.ch/journals/hhe

  Drug Dosage / Copyright

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