Disease Database

Mucopolysaccharidosis

Mucopolysaccharidosis

Mucopolysaccharidosis (MPS), also known as mucopolysaccharide storage disease, is a condition caused by the deficiency of enzymes required to degrade mucopolysaccharides (also known as glycosaminoglycans). This leads to the accumulation of partially degraded mucopolysaccharide fragments within lysosomes, resulting in various disease manifestations. This disease can affect the entire body, primarily presenting with abnormalities in soft tissues, bones, internal organs, and the central nervous system.

Bronchopulmonary dysplasia

Bronchopulmonary dysplasia

Bronchopulmonary dysplasia is a disease caused by impaired development of the lower respiratory tract (trachea, bronchi, and lungs), primarily characterized by difficulty breathing and recurrent infections after birth. Children with this condition may experience symptoms such as dyspnea, pallor, cyanosis of the lips, and tachypnea. In severe cases, apnea may occur.

Infantile choreoathetosis