Question

The smell of my child’s urine is very strong, and the cotton cloth used for wiping is also very smelly. Is it possible that there is a kidney problem, or is this common in all children? I am looking for detailed assistance.

Answer

At birth, the baby is normal. As they start breastfeeding, symptoms usually reappear between 3 to 6 months, and by 1 year old, the symptoms are more pronounced. 1. In the early stages of the nervous system, there may be abnormal neurological behavior such as restlessness, hyperactivity, or anorexia, listlessness, and in a very few cases, increased muscle tone, hyperactive reflexes, and recurrence of seizures (about 25%), followed by increasingly obvious intellectual growth and development delays, with 80% showing EEG abnormalities. The neurological symptoms of the BH4 deficiency type appear earlier and are more severe, commonly with decreased muscle tone, anorexia, seizures. Without treatment, death is often imminent in early childhood.