Question
What is the genetic probability of phenylketonuria?
Answer
Phenylketonuria is a common amino acid metabolism disorder caused by an enzyme defect in the phenylalanine decomposition metabolic pathway, which prevents phenylalanine from being converted into tyrosine, leading to the accumulation of phenylalanine and its ketones in the body and their excessive excretion in urine. Phenylketonuria is a congenital metabolic disease resulting from chromosomal gene mutations that cause a deficiency in phenylalanine hydroxylase (PAH) in the liver, leading to a blockage in the decomposition metabolism of phenylalanine (PA), which causes damage to the central nervous system. Neurological abnormalities are rare, but they may include brain malformations, increased muscle tone, abnormal gait, hyperreflexia, fine hand tremors, and repetitive limb movements.