Question

The baby was born with brown hair, and initially, it was thought not to matter. The body has not grown much, and development has been slow, with delayed intellectual development. There are often scratched scars on the body, it is particularly dry, and the urine has an extremely unpleasant smell. Where can I find information about Phenylketonuria?

Answer

This condition is relatively common among genetic amino acid metabolic deficiency diseases, with an autosomal recessive inheritance pattern. Clinical manifestations are inconsistent, with the main diagnostic features including intellectual disability, neurological symptoms, eczema, which is a skin disease prone to occur, skin scratches, depigmentation, and a mouse-like odor, as well as abnormal electroencephalograms. If early diagnosis and treatment are obtained, the aforementioned clinical manifestations may not recur, intelligence can be normal, and abnormal electroencephalograms can be restored. Phenylketonuria is generally screened for in children at birth, with an incidence rate of approximately 1 in 14,000 in our country.