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Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms. Tohoku J Exp Med 1998 May;185(1):67-70

Date

08/26/1998

Pubmed ID

9710947

DOI

10.1620/tjem.185.67

Scopus ID

2-s2.0-0032064818   7 Citations

Abstract

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.

Author List

Imaeda M, Sumi S, Imaeda H, Suchi M, Kidouchi K, Togari H, Wada Y

Author

Mariko Suchi MD, PhD Associate Professor in the Pathology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Cerebral Palsy
Child, Preschool
Humans
Intellectual Disability
Male
Orotate Phosphoribosyltransferase
Orotic Acid
Orotidine-5'-Phosphate Decarboxylase
Purine-Pyrimidine Metabolism, Inborn Errors
jenkins-FCD Prod-482 91ad8a360b6da540234915ea01ff80e38bfdb40a