Patient's question:
Patient is 2 years old. The baby has always had poor appetite and does not sleep well during naps at night. They are easily startled, and their urine has a strange odor. Two days ago, I took her to a good local hospital for a thorough examination, and the examination revealed phenylketonuria. The doctor said the situation is not optimistic and suggested I take her for further examination. How is phenylketonuria treated?Doctor's answer:
Phenylketonuria (PKU), a rare disease, is a genetic disorder caused by a deficiency in enzymes within the phenylalanine metabolic pathway. This prevents phenylalanine from being converted into tyrosine, leading to the accumulation of phenylalanine and its ketone bodies, which are excreted in large quantities in the urine. The condition is characterized by a mouse-like odor in the urine. Every newborn should undergo a diaper test for early diagnosis and treatment. First, it's important not to be overly anxious; targeted treatment can only be implemented after a definitive diagnosis is made.