Patient's question:
My baby has been spitting up milk recently, and he only has a bowel movement once every three days. I thought it was because he had a stomachache, and he also often sticks out his tongue. During the day, he eats and sleeps normally, and we only give him formula once a day. We've been to the hospital several times, but they couldn't find any symptoms. Later, a doctor suspected phenylketonuria. What are the early symptoms of phenylketonuria?Doctor's answer:
1. Early on, there may be abnormal neural pathways, such as restlessness, hyperactivity, or anorexia, lethargy, and in very rare cases, 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. Nerve system symptoms in BH4 deficiency types reappear earlier and are more severe, commonly including hypotonia, anorexia, and seizures. Without treatment, affected individuals often die in early childhood.2. Due to insufficient melanin production, hair, skin, and iris color may lighten within a few months after birth. The skin may become dry, and some may also develop eczema. Phenylacetic acid is excreted in urine and sweat, giving a distinctive mouse-like odor.