Tohoku J. Exp. Med., 1998, 185 (1)

Case Report

Hereditary Orotic Aciduria Heterozygotes Accompanied with Neurological Symptoms

MASAYUKI IMAEDA, SATOSHI SUMI, HIROMI IMAEDA,1 MARIKO SUCHI, KIYOSHI KIDOUCHI,2 HAJIME TOGARI and YOSHIRO WADA

Department of Pediatrics, Nagoya City University Medical School, Nagoya 467-0001, 1Department of Pediatrics, Nagoya Johoku Municipal Hospital, Nagoya 462-0033, and 2Department of Pediatrics, Nagoya City Higashi General Hospital, Nagoya 464-0071

  • We report a family with hereditary orotic aciduria heterozygotes. A 3-year-old boy who had been diagnosed as having cerebral palsy and mental retardation presented himself with an increase in excretion of urinary orotic acid. Enzymatic studies revealed that the boy and his healthy mother were hereditary orotic aciduria heterozygote carriers. We can not prove that this pyrimidine disorder caused his neurological symptoms, but his pyrimidine nucleoside supply may have been insufficient in his neonatal period.
    Key words--- orotic aciduria; orotic acid; heterozygotes
    © 1998 Tohoku University Medical Press

    Tohoku J. Exp. Med., 1998, 185, 67-70
    Address for reprints: Masayuki Imaeda, Department of Pediatrics, Nagoya City Child Welfare Center, Kawanayama-cho, Showa-ku, Nagoya 466-0827, Japan.

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