Question
My son is three years old and usually sleeps less than others. His skin and hair color look unusual. The hospital said it’s phenylketonuria. What symptoms does this disease have?
Answer
Phenylketonuria usually does not show any obvious symptoms at birth, but becomes more apparent by the age of one. The main symptoms include neurological abnormalities, such as hyperactivity or minor epilepsy seizures. In rare cases, it may present with increased muscle tone and exaggerated deep tendon reflexes. Common symptoms also include decreased muscle tone, anorexia, and seizures, with significant intellectual impairment; urine and sweat may have a mouse urine odor. If jaundice does not subside, it may be due to Breast milk jaundice (breast milk jaundice) or pathological jaundice. Pathological jaundice is divided into infectious and non-infectious types. Infectious jaundice can be caused by bacterial and other pathogens, such as viruses, syphilis spirochetes, toxoplasma, etc., which can change the skin color. It is recommended to actively cooperate with the doctor for diagnosis and treatment after diagnosis.