Patient's question:
My son is three years old this year. He usually gets relatively little sleep, and both his skin and hair color look abnormal. The hospital said it's phenylketonuria. What are the symptoms of this disease?Doctor's answer:
Phenylketonuria, most children do not show obvious symptoms at birth, and symptoms become more apparent by the age of one. The main symptoms include: neurological issues, typically hyperactivity or petit mal seizures, rarely increased muscle tone and hyperreflexia, commonly decreased muscle tone, anorexia, and convulsions, significant intellectual disability; urine and sweat have a mouse-like odor. If jaundice does not subside, it could be 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 pathogen infections, such as viruses, syphilis spirochetes, toxoplasma, etc., all of which can cause changes in skin color. It is recommended to actively cooperate with the doctor after diagnosis and implement treatment promptly.