Question
A four-year-old girl has difficulty speaking clearly and is slow in her reactions. She has been to Harbin Medical University Hospital.
Answer
The main clinical features of the patient include intellectual disability, delayed physical development, and distinctive facial features, which may be accompanied by multiple malformations. There is currently no effective treatment for the disease, and long-term patient education and training should be provided. Preventing infectious diseases and various communicable diseases, early administration of oral vitamin B6, r-tyrosine, folic acid, and other supplements can help improve function.