Tag: enzyme replacement therapy

  • Mucopolysaccharidosis Type I

    Mucopolysaccharidosis Type I: Definition and Description of Mucopolysaccharidosis Type I: Mucopolysaccharidosis Type I (MPS I) is a rare genetic disorder resulting from a deficiency of the enzyme alpha-L-iduronidase. This deficiency leads to the accumulation of glycosaminoglycans (GAGs), which are long chains of sugar molecules that are essential for various bodily functions. The excessive buildup of…

  • Mucopolysaccharidosis Type II

    Mucopolysaccharidosis Type II: Definition and Description of Mucopolysaccharidosis Type II: Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare genetic disorder that falls under the category of lysosomal storage diseases. It is caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S), which plays a crucial role in breaking down glycosaminoglycans (GAGs).…

  • MPS Disorder

    MPS Disorder: Definition and Description of MPS Disorder: MPS Disorder, or mucopolysaccharidosis, is a group of inherited metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes responsible for breaking down mucopolysaccharides, also known as glycosaminoglycans. These complex carbohydrates accumulate in the body and lead to progressive damage in various organs and tissues. Symptoms…

  • MPS Disorder I

    MPS Disorder I: Definition and Description of MPS Disorder I: MPS (Mucopolysaccharidosis) Disorder I, also known as Hurler syndrome or MPS I, is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is responsible for the breakdown of glycosaminoglycans (GAGs), which are long chains of sugar molecules in the body.…

  • Lysosomal Storage Disorders

    Lysosomal Storage Disorders Definition and Description of Lysosomal Storage Disorders Lysosomal Storage Disorders (LSDs) are a group of inherited metabolic conditions that result in the malfunction of lysosomes, which are cellular organelles responsible for breaking down waste materials and cellular debris. When lysosomes do not function properly, harmful substances can accumulate in cells, leading to…

  • Infantile Gaucher Disease

    Infantile Gaucher Disease Definition and Description of Infantile Gaucher Disease Infantile Gaucher Disease is a rare genetic disorder that primarily affects infants and continues into childhood. It is caused by a deficiency of the enzyme glucocerebrosidase, which is essential for breaking down a type of fat called glucocerebroside. The accumulation of this fat in various…

  • Hunter Syndrome

    Hunter Syndrome Definition and Description of Hunter Syndrome Hunter Syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that primarily affects males. It is caused by the deficiency of an enzyme called iduronate-2-sulfatase, which is essential for the breakdown of complex carbohydrates known as glycosaminoglycans (GAGs). When this enzyme is…

  • Hurler Disease

    Hurler Disease Definition and Description of Hurler Disease Hurler Disease, also known as mucopolysaccharidosis type I (MPS I), is a rare genetic disorder caused by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is crucial for breaking down certain complex carbohydrates, known as glycosaminoglycans (GAGs), in the body. The accumulation of these GAGs can…

  • Globoid Cell Leukoencephalopathy

    Globoid Cell Leukoencephalopathy Definition and Description of Globoid Cell Leukoencephalopathy Globoid Cell Leukoencephalopathy (GCL) is a rare, inherited neurological disorder characterized by the progressive degeneration of the nervous system. It is a form of leukodystrophy, which affects the white matter of the brain. GCL is primarily caused by the deficiency of the enzyme galactocerebrosidase (GALC),…

  • Glucocerebrosidosis

    Glucocerebrosidosis Definition and Description of Glucocerebrosidosis Glucocerebrosidosis, also known as Gaucher’s disease, is a rare genetic disorder caused by the accumulation of glucocerebroside due to a deficiency of the enzyme glucocerebrosidase. This enzyme is essential for the breakdown of glucocerebroside, a fatty substance found in cells. The condition leads to the enlargement of organs such…