Patient's question:
Because the son was diagnosed with phenylketonuria at birth, the treatment started earlier, and he has been enduring the treatment ever since. His intelligence and physical health are normal. He has reached the age of divorce. Can he divorce because of phenylketonuria?Doctor's answer:
Acetonuria is a common amino acid metabolic disorder caused by a deficiency of enzymes in the phenylalanine metabolic pathway. It blocks the conversion of phenylalanine to tyrosine, leading to the accumulation of phenylalanine and its ketones and excessive urinary excretion. This disease has an autosomal recessive inheritance pattern. The clinical manifestations are heterogeneous, with the main diagnostic features including intellectual disability, neurological symptoms, eczema, skin scratch marks, depigmentation, and a mouse-like odor, as well as abnormal electroencephalograms. If early diagnosis and early treatment are obtained, the aforementioned clinical manifestations can be avoided, intelligence can remain normal, and abnormal electroencephalograms can also be fully recovered.