Question
What kind of genetic form does phenylketonuria have?
Answer
Phenylketonuria (PKU) is a common amino acid metabolic disorder caused by a deficiency in the enzyme responsible for converting phenylalanine to tyrosine, leading to the accumulation of phenylalanine and its ketoacid in the urine. Patients are usually normal at birth and begin to show symptoms at 3 to 6 months of age, with more pronounced symptoms by 1 year of age. Clinical manifestations primarily include developmental delay, recurrent seizures, and hair discoloration. Based on developmental delay, there may also be behavioral abnormalities such as hyperactivity, or convulsions or epilepsy.