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 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 …

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.

Jul 10, 2023 · 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).

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 …

Learn about Hurler syndrome, find a doctor, complications, outcomes, recovery and follow-up care for Hurler syndrome.

MPS 1 is a spectrum of disease ranging from a mild (attenuated) form, called Scheie, to severe disease, called Hurler syndrome. Hematopoietic stem cell transplantation and/or enzyme replacement therapy is the mainstay of treatment for individuals with severe MPS 1.

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.

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.

MPS I (Hurler-Scheie) is a continuum of severity based upon the symptoms, ranging from severe to attenuated. There is a great deal of variability of symptoms among individuals with MPS I, often making the specific designation difficult.