Amino acid profile testing can diagnose amino acid deficiency metabolic diseases and provide treatment plans.

Currently, amniocentesis can only detect chromosomal abnormalities and neural tube defects; it cannot detect genetic metabolic diseases. Genetic metabolic diseases can have serious impacts on a child’s health and require timely and accurate treatment.

Treatment outcomes and potential complications of genetic metabolic brain diseases

Analysis of a five-month-old baby’s condition with white skin, soft body, drowsiness, and intermittent crying, along with treatment suggestions

What precautions should be taken when undergoing a urine screening for genetic metabolic diseases?

Discussing the normal values and clinical symptoms of phenylketonuria.

What are the symptoms of pediatric genetic metabolic disorders?

Understanding the genetic metabolic diseases that may appear in pre-pregnancy checks

Learn about the types of genetic metabolic diseases and their importance in prenatal screening.