Current approaches to Hurler syndrome are tailored to specific patients and may include enzyme replacement therapy, bone marrow transplant, hematopoietic stem cell transplant, and targeted symptom management. Treatment plans require interdisciplinary collaboration and depend greatly on your child’s age and specific disease presentation.

2023年7月10日 · Hurler syndrome is caused by a deficiency of a lysosomal enzyme, IUDA, which aids in the breakdown of dermatan sulfate and heparin sulfate (GAG). This finally results in the accumulation of large amounts of GAG in the body, eventually causing the cells to become severely dysfunctional leading to death.

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.

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.

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.

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 …

2016年11月16日 · Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (McKusick, 1972).

2016年2月6日 · MPS I is a rare autosomal recessive inherited disease caused by a deficiency of alpha-L-iduronidase, an enzyme required for the degradation of the glycosaminoglycans (GAGs) dermatan and heparin sulfate, due to mutations in the IDUA gene.

2024年12月17日 · Hurler or Hurler-Scheie syndrome is one of the mucopolysaccharidoses (MPS type I). The estimated incidence is ~1:100,000. The diagnosis may be suspected with characteristic skeletal, ophthalmic, neurodevelopmental, or biochemical findings. Urine analysis may show mucopolysaccharides 4.

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 …