MEDizzy - A 4-day-old infant develops severe jaundice and is

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NUCLEIC ACID

A 4-day-old infant develops severe jaundice and is transferred to the neonatal intensive care unit for aggressive phototherapy. He is found to have a complete loss of UDP-GT activity. The loss of this enzyme activity leads to which of the following disorders?

ExplanationCrigler-Najjar syndrome, type I, results from a complete lack of UDP-GT activity and is a lethal condition. Gilbert syndrome is a mild defect in bilirubin conjugation that is usually asymptomatic, although it is due to a subtle defect in the same enzyme. Dubin-Johnson syndrome is a transport defect in bilirubin and does not involve its conjugation with glucuronic acid. Hereditary orotic aciduria results from a defect in pyrimidine synthesis.