Abstract
Elevated excretion of thymine and uracil and decreased excretion of 3-aminoisubutyrate was found in three patients.
Patient 1 had seizures at age 2 days and these gradually resolved until 2 years of age when treatment was stopped. Since then he has only had myoclonic jerks during sleep. Repeated EEG recordings have been normal. The boy has a fairly normal mental development but does not speak at four years of age. His father has always had extensive myoclonic jerks during sleep.
Patient 2 is a 5 year old girl with slight motor delay and severe mental retardation. She has had febrile seizures and EEG and a brain CT scan have been normal.
Patient 3 has Krabbe's disease with characteristic symptoms of this disorder.
There is no consistent clinical presentation in the patients detected by metabolic investigation and thymine-uraciluria has been observed in healthy subjects - is the finding pathogenic?
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Haverkorn, C., Blomquist, H., Snellman, K. et al. 92 THYHINE-URACILURIA – A DISEASE OR A F0RTUITI0US FINDING?. Pediatr Res 36, 18 (1994). https://doi.org/10.1203/00006450-199407000-00092
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DOI: https://doi.org/10.1203/00006450-199407000-00092
