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.

What is mucopolysaccharidosis type 1? Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disorder characterized by an abnormal build-up of various toxic materials, called glycosaminoglycans (GAGs) in the body's cells.

Oct 31, 2002 · Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity.

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 …

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 …

Apr 22, 2019 · MPS I is caused by variations (AKA mutations or pathogenic sequence variants) in the IDUA gene and is inherited in an autosomal recessive pattern. Therefore, both parents of every affected MPS I individual are carriers of MPS I. Being a …

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.

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.

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 (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).