Patient's question:
The child's intelligence is gradually declining, and deep intellectual weakness reappears; there is also a recurrence of the victim's rebellious mentality, with all body hair and skin gradually whitening; the muscles all over the body may twitch constantly, a bit foolish, is it ketonuria or phenylketonuriaDoctor's answer:
The shortcomings of enzymes in the phenylalanine catabolic pathway prevent phenylalanine from being converted into tyrosine, leading to the accumulation of phenylalanine and its ketone bodies, which are excreted in large quantities in the urine. Ketonuria refers to the presence of a high concentration of ketone bodies in the urine, primarily produced by fat catabolism. As previously mentioned, the former is a metabolic disorder of phenylalanine, while the latter is caused by excessive fat compression. The former is mostly a congenital genetic disease, while the latter is common in diabetes.