Mucopolysaccharidosis Type I: Hurler Syndrome - Symptoms
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.
Hurler syndrome - Wikipedia
Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes.
Hurler syndrome | About the Disease | GARD - Genetic and Rare Diseases …
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
MPS I (Hurler Syndrome) - Boston Children's Hospital
What is MPS I (Hurler syndrome)? Mucopolysarcharidosis type I (MPS I) is a rare, inherited disorder. MPS I is also known as Hurler syndrome. Children with Hurler syndrome have an abnormal accumulation of complex sugars in their cells, which affects many of …
Hurler Syndrome (MPS I Disease) Symptoms and Treatment
2024年10月17日 · Hurler syndrome (MPS I) is a progressive genetic disease. What are the symptoms, how is it diagnosed, and what are the treatment and prognosis?
Hurler Syndrome - StatPearls - NCBI Bookshelf
2023年7月10日 · Hurler syndrome was formerly known as gargoylism. It is an inherited lysosomal disorder caused by the absence of alpha-L-iduronidase, an enzyme responsible for the degradation of glycosaminoglycans (GAGs or mucopolysaccharides).
Hurler syndrome Information | Mount Sinai - New York
Learn about Hurler syndrome, find a doctor, complications, outcomes, recovery and follow-up care for Hurler syndrome.
MPS Type I, Hurler Disease: Symptoms, Causes, Life Expectancy - MedicineNet
MPS I (mucopolysaccharidosis type 1 or Hurler syndrome) is an inherited condition that involves the fourth chromosome. Learn the symptoms, causes, treatment, and life expectancy of this genetic condition.
Hurler syndrome - National Organization for Rare Disorders
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, …
Mucopolysaccharidosis Type I - GeneReviews® - NCBI Bookshelf
2002年10月31日 · Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I: Infants appear normal at birth.