Mucopolysaccharidosis Type VII (Sly Syndrome)
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a rare lysosomal storage disorder caused by a deficiency of the β-glucuronidase (GUSB) enzyme.…
Mucopolysaccharidosis Type IV-A (Morquio A Syndrome)
Mucopolysaccharidosis type IV-A (MPS IV-A), also known as Morquio A syndrome, is a rare lysosomal storage disorder caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase…
Mucopolysaccharidosis Type II (MPS II)
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase…
Mucopolysaccharidosis Type I (MPS I)
Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This deficiency leads to the accumulation of…
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 Alpha-1,4-Glucosidase Deficiency (Pompe Disease)
Lysosomal alpha-1,4-glucosidase deficiency, also known as Pompe disease or Glycogen Storage Disease Type II (GSD II), is a rare genetic disorder caused by a deficiency…
Infantile Hypophosphatasia: Causes, Symptoms, and Treatment
Infantile hypophosphatasia (HPP) is a rare genetic disorder that affects bone mineralization, leading to skeletal deformities, respiratory issues, and severe developmental concerns. This condition occurs…
Gaucher’s Disease: Causes, Symptoms, Diagnosis, and Treatment
Gaucher’s disease is a rare genetic disorder caused by a deficiency of the enzyme glucocerebrosidase. This leads to the accumulation of glucocerebroside in the spleen,…
Exocrine Pancreatic Insufficiency (EPI)
Exocrine pancreatic insufficiency (EPI) is a medical condition in which the pancreas fails to produce or release enough digestive enzymes, leading to malabsorption of nutrients.…