Maroteaux-Lamy Syndrome
Marginal zone lymphoma (MZL) is a slow-growing, rare form of B-cell non-Hodgkin lymphoma (NHL) that arises from the marginal zone of lymphoid tissue. It is…
Lysosomal Acid Lipase Deficiency (LAL-D)
Lysosomal Acid Lipase Deficiency (LAL-D) is a rare genetic disorder affecting the body's ability to break down lipids. The condition results from mutations in the…
Isovaleric Acidemia: Causes, Symptoms, Diagnosis
Isovaleric acidemia (IVA) is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This enzyme is essential for breaking…
Hyperammonemia Due to Methylmalonic Acidemia
Hyperammonemia due to methylmalonic acidemia (MMA) is a rare yet serious metabolic disorder characterized by elevated ammonia levels in the blood. This condition arises from…
Congenital sucrase-isomaltase deficiency
Congenital Sucrase-Isomaltase Deficiency (CSID) is a rare inherited disorder that affects the digestive system, causing difficulties in the breakdown of certain sugars in the body.…
Childhood hypophosphatasia
Childhood hypophosphatasia (HPP) is a rare genetic disorder characterized by defective bone mineralization, leading to weakened bones and dental abnormalities. This condition results from mutations…