Patient's question:
The baby was born with brown hair. At first, we thought it was fine, but the child has not grown much physically and has delayed intellectual development. The skin is often scratched and scarred, extremely dry, and the urine has a very unpleasant odor. Where in the country is phenylketonuria managed?Doctor's answer:
This disease is relatively common among hereditary amino acid metabolism disorders. It is inherited in an autosomal recessive, skipping-generation pattern. The clinical manifestations are heterogeneous, with the main diagnostic features being intellectual disability, psychiatric and neurological symptoms, and a high susceptibility to eczema, a skin condition. This skin condition, along with 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 may not recur, intelligence can be normal, and abnormal electroencephalograms can also be completely restored. Phenylketonuria is generally screened for in newborns. In China, the incidence rate is approximately 1/14,000.