Patients with galactosemia, due to enzyme deficiency, are unable to metabolize lactose normally, and therefore cannot drink breast milk or formula.

Ketosis and phenylketonuria are two distinct metabolic diseases. The former is related to the production of ketone bodies from fat metabolism, while the latter is caused by an enzyme defect in the metabolism pathway of phenylalanine.

Screening shows that the newborn’s thyroid hormone levels are abnormal, which may involve metabolic diseases.

Discussing the possible causes of short stature in full-term small-for-gestational-age babies and subsequent medical advice

How to treat phenylketonuria and control diet?

What Causes Phenylalanine Metabolic Disorder?

Phenylketonuria is an amino acid metabolic disorder characterized by intellectual disability and a distinctive odor in urine. Treatment primarily involves dietary control, reducing the intake of phenylalanine-rich foods, and the use of specialized infant formula. For intellectual disability, rehabilitation training can be conducted, but there is no surgical treatment method available.