Mutations in the : UBP1 gene on Chromosome 21q11.3 cause deficiency in beta-ureidoproprionase, 1 of 3 enzymes in the liver that degrade pyramidines It's a very rare inborn error of metabolism that causes biochemical abnormalities & clinical signs that range from Intellectual Disability, multiple congenital anomalies & seizures to normal neurological development, depending on the mutations in the UBP1 gene.
Answered 3/18/2015
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