Pediatric Neurology
Volume 26, Issue 1 , Pages 65-67 , January 2002

A novel mutation, P126R, in a Japanese patient with HHH syndrome

  • Takeshi Miyamoto, MD

      Affiliations

    • Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, Japan
    • ,
  • Naomi Kanazawa, BS

      Affiliations

    • Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, Japan
    • Research Division of Biochemistry, Kitasato University School of Medicine, Kanagawa, Japan
    • ,
  • Chiemi Hayakawa, MD

      Affiliations

    • Department of Pediatrics, Central Hospital, Aichi Welfare Center for Persons with Developmental Disabilities, Aichi, Japan
    • ,
  • Seiichi Tsujino, MD

      Affiliations

    • Corresponding Author InformationCommunications should be addressed to: Dr. Tsujino; Department of Inherited Metabolic Disease; National Institute of Neuroscience; NCNP; 4-1-1, Ogawahigashi; Kodaira; Tokyo 187-8502 Japan
    • Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, Japan

Received 5 April 2001 ,Accepted 27 June 2001.

References 

  1. Valle D, Simell O. The hyperornithinemias. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The metabolic and molecular bases of inherited disease. 7th ed.. New York: McGraw-Hill, Inc; 1995;p. 1147–1185
  2. Camacho JA, Obie C, Biery B, et al.  Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet. 1999;22:151–158
  3. Shih VE, Efron ML, Moswe HW. Hyperornithinemia, hyperammonemia, and homocitrullinuria (A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation). Am J Dis Child. 1969;117:83–92
  4. Tsujino S, Kanazawa N, Ohashi T, et al.  Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Ann Neurol. 2000;47:625–631
  5. Miyamoto T, Kanazawa N, Kato S, et al.  Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis (A common mutation, R179X). J Hum Genet. 2001;46:260–262
  6. Shih VE, Ficicioglu C. Genotype and phenotype findings in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. J Inherit Metab Dis. 2000;23(Suppl 1):72; (abstract)

PII: S0887-8994(01)00335-6

Pediatric Neurology
Volume 26, Issue 1 , Pages 65-67 , January 2002

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