Patient's question:
The older child has a very strong urine smell, and the cloth used to wipe the urine also has a strong smell. Could this be a kidney problem, or is it normal for all children to be like this? The kind of assistance needed: Please provide detailed information.Doctor's answer:
At birth, the patient was normal. After starting to feed, symptoms usually reappear between 3 to 6 months, and by the age of 1, the symptoms become.1. In the early stages, the nervous system may show abnormal nerve pathways, such as restlessness, hyperactivity, or anorexia, lethargy. In a few cases, there may be increased muscle tone, hyperactive tendon reflexes, and recurrent seizures (about 25%). Subsequently, intellectual and developmental delays become increasingly apparent, with 80% having abnormal EEG results.
For BH4 deficiency, the nervous system symptoms reappear earlier and are more severe, commonly including hypotonia, anorexia, and seizures. Without treatment, the patient often faces life-threatening conditions in early childhood.