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 - Cleveland Clinic
2022年8月17日 · 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 | About the Disease | GARD - Genetic and Rare …
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.
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).
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 …
What Is Hurler Syndrome (MPS I)? - UPMC Children's Hospital of …
What Is Hurler Syndrome (MPS I)? Hurler syndrome is an inherited condition caused by a faulty gene. Children with Hurler syndrome lack an enzyme that the body needs to digest sugar. Undigested sugar molecules build up in the body, causing progressive damage to the brain, heart, and other organs.
Hurler syndrome Information | Mount Sinai - New York
Learn about Hurler syndrome, find a doctor, complications, outcomes, recovery and follow-up care for Hurler syndrome.
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, …
MPS I (Mucopolysaccharidosis Type I, Hurler Syndrome) - 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, Hurler-Scheie Syndrome, and Scheie Syndrome ... - Medscape
Hurler syndrome is caused by mutation in the gene (IDUA) that encodes alpha-L-iduronidase on chromosome 4. 4 Many different mutations have been found at this locus, including...