Patient's question:
Recessive inheritance of autosomal chromosomeDoctor's answer:
Phenylketonuria and phenylalanineemia are actually the same disease. Advice: Both are amino acid metabolism disorders, caused by enzyme defects in the phenylalanine metabolic pathway, which prevent phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. The main clinical manifestations include intellectual disability, recurrent seizures, and hypopigmentation. This disease is inherited in an autosomal recessive manner. Life care: The only difference between the two is the name; they are actually the same disease with the same underlying principle.