Phenylketonuria is a genetic disorder, and dietary control is the primary treatment method.

Down Syndrome is a genetic disorder caused by an extra chromosome on the 21st pair, often leading to intellectual disability and distinctive physical features. Although there is no current treatment, it can be prevented through screening during pregnancy.

G6PD deficiency, also known as favism, is a genetic disorder caused by a mutation in the G6PD gene, leading to reduced activity of the enzyme and decreased resistance of red blood cells to oxidative damage, thereby causing hemolytic anemia.

What is Galactosemia, a Genetic Disease?

Galactosemia is a genetic metabolic defect in which patients, due to a lack of 1-phosphogalactose uridylyltransferase, are unable to metabolize galactose produced from lactose decomposition.

HbH Disease is a type of thalassemia that may require bone marrow transplantation for treatment.

Explore the definition, treatment methods, and the importance of genetic testing for HbH disease.

Hutigto Dance Disease is an autosomal dominant genetic disorder that primarily affects patients’ emotions, movements, and intelligence.

Neonatal genetic metabolic disease is a condition caused by genetic factors, which can generally be managed through preventive and treatment methods, such as improving nutrition, supplementing vitamins and trace elements, balancing diet, reasonable combination, and traditional Chinese medicine opsonize. If a child is diagnosed with neonatal genetic metabolic disease, they should seek medical attention immediately, avoid self-administering unknown drugs, and follow the doctor’s orders for medication. Parents should closely monitor their child’s condition and take timely measures to help treat the disease.

Pediatric phenylketonuria is a chromosomal recessive metabolic disorder that primarily affects the metabolism of phenylalanine, with symptoms including intellectual disability, delayed growth and development, and psychiatric symptoms. Diagnosis can be made through blood tests to measure phenylalanine levels, and dietary precautions include a low-phenylalanine diet.