Basic neonatal screening solutions

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder caused by mutations in the G6PD gene located on the X chromosome, affecting the body's ability to produce the G6PD enzyme

Congenital hypothyroidism is a condition in which a newborn baby's thyroid gland does not produce enough thyroid hormone.

Congenital adrenal hyperplasia (CAH) is a genetic disorder caused by a deficiency of an enzyme needed for hormone production in the adrenal glands.

Bệnh phenylketonuria (PKU) là một rối loạn di truyền bẩm sinh do thiếu enzyme phenylalanine hydroxylase, enzyme này cần thiết để chuyển hóa axit amin phenylalanine thành tyrosine.

Galactosemia is a metabolic disorder that prevents the body from converting galactose into glucose. If not detected and treated promptly, the disease can cause many dangerous diseases, especially in newborns.

Cystic fibrosis is a genetic disorder that causes abnormal changes in the exocrine glands, leading to a buildup of thick mucus in the lungs and digestive system, which can negatively affect the lungs and intestines.

Biotinidase deficiency (BTD) is a genetic disorder that affects the ability to recycle the vitamin biotin, which is necessary for many physiological functions. Infants with this condition may experience symptoms such as hair loss, dermatitis, seizures, and muscle weakness if not promptly diagnosed and treated.