Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms. Tohoku J Exp Med 1998 May;185(1):67-70
Date
08/26/1998Pubmed ID
9710947DOI
10.1620/tjem.185.67Scopus ID
2-s2.0-0032064818 (requires institutional sign-in at Scopus site) 8 CitationsAbstract
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 YAuthor
Mariko Suchi PhD, MD Professor in the Pathology and Laboratory Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Cerebral PalsyChild, Preschool
Humans
Intellectual Disability
Male
Orotate Phosphoribosyltransferase
Orotic Acid
Orotidine-5'-Phosphate Decarboxylase
Purine-Pyrimidine Metabolism, Inborn Errors
