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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