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Mucopolysaccharidosis Type I: Hurler Syndrome - Symptoms
Aug 17, 2022 · Hurler syndrome is the most severe form of mucopolysaccharidosis type I, a hereditary lysosomal storage condition. Cells can't break down sugar molecules, which affects how they function. Symptoms are life-threatening, target your bones and organs, and could cause issues with cognitive development. Treatment increases life expectancy.
Mucopolysaccharidosis Type I - GeneReviews® - NCBI Bookshelf
Oct 31, 2002 · Mucopolysaccharidosis type I (MPS I), a progressive multisystem disorder with features ranging over a wide continuum, is considered the prototypic lysosomal storage disease.
Mucopolysaccharidosis type I - Wikipedia
Mucopolysaccharidosis type I is a spectrum of diseases in the mucopolysaccharidosis family. It results in the buildup of glycosaminoglycans (or GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for …
Mucopolysaccharidosis type I - MedlinePlus
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe.
Mucopolysaccharidosis Type I - Symptoms, Causes, Treatment
Apr 22, 2019 · Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that affects many parts of the body (multisystem). Children with MPS I are described as having either a severe or attenuated (meaning reduced) form of the disorder based on age of onset, severity of symptoms, rate of disease progression and whether there is early and direct ...
Mucopolysaccharidosis I (MPS I) - Hurler Syndrome and Scheie ... - WebMD
Sep 4, 2023 · MPS I stands for mucopolysaccharidosis type I. It starts in childhood. You can't "catch" it -- it comes from your genes. People with MPS I can't make a specific protein called alpha-L...
Mucopolysaccharidosis Type 1 (MPS 1) - Children's Hospital of Philadelphia
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease, which is an inherited metabolic disease characterized by an abnormal build-up of various toxic materials in the body's cells.
Mucopolysaccharidosis Type I: Current Treatments, Limitations, …
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease, caused by a deficiency of the enzyme alpha-L-iduronidase (IDUA). Currently approved treatments consist of enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT).
Mucopolysaccharidosis type I | Newborn Screening
Mucopolysaccharidosis type I (MPS I) is one of a group of inherited (genetic) conditions that prevent the body from processing sugars properly. Your body uses complicated sugars called glycosaminoglycans (GAGs) in several important processes.
Mucopolysaccharidosis type I - MedlinePlus
Apr 24, 2023 · Mucopolysaccharidosis type I (MPS I) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules. These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides).