Patient's question:
The son's hair is very yellow, very worried about lacking trace elements. The doctor said it was phenylketonuria. What causes phenylketonuria?Doctor's answer:
Phenylketonuria is a common amino acid metabolic disorder caused by a deficiency of phenylalanine and enzymes, which prevents phenylalanine from being converted into tyrosine. Phenylalanine and its ketone bodies accumulate in the body and are excreted in large amounts in the urine. This condition is relatively common among hereditary amino acid catabolic metabolic disorders, with an autosomal recessive inheritance pattern across generations. Phenylalanine is one of the essential amino acids required by the human body. After birth, the daily intake of phenylalanine is approximately 0.5g, increasing to 4g for children and adults. In the process of phenylalanine to tyrosine conversion, in addition to PAH, tetrahydrobiopterin (BH4) must also be added as a coenzyme.