Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome)Symptoms, Doctors, Treatments, Advances & More
Learn About Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome)
View Main Condition: Mucopolysaccharidoses (MPS)
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. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.
Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt the movement of molecules inside the cell.
Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS I is less common and occurs in about 1 in 500,000 newborns.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
M Health Fairview Explorer Pediatric Specialty Clinic
Chester Whitley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Whitley is rated as an Elite provider by MediFind in the treatment of Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome). He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Whitley is board certified in Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984 and Clinical Biochemical Genetics: American Board Of Medical Genetics And Genomics, 1984. Dr. Whitley is currently accepting new patients.
M Health Fairview Center For Pediatric Blood And Marrow Transplant And Celluar Therapy
Paul Orchard is a Transplant Surgeon and a Pediatrics provider practicing medicine in Minneapolis, Minnesota. Dr. Orchard is rated as an Elite provider by MediFind in the treatment of Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome). He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Adrenoleukodystrophy (ALD), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidoses (MPS), Bone Marrow Transplant, and Osteotomy. Dr. Orchard is currently accepting new patients.
M Health Fairview Journey Pediatric Specialty Clinic
Troy Lund is a Pediatrics specialist and a Pediatric Hematologist Oncology provider practicing medicine in Minneapolis, Minnesota. Dr. Lund is rated as an Elite provider by MediFind in the treatment of Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome). He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Adrenoleukodystrophy (ALD), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidoses (MPS), Alpha Mannosidosis, and Bone Marrow Transplant. Dr. Lund is board certified in Pediatrics: American Board Of Pediatrics, 2007 and Pediatric Hematology-Oncology: American Board Of Pediatrics, 2011. Dr. Lund is currently accepting new patients.
Summary: A first-in-human study using ISP-001 in patients with Mucopolysaccharidosis Type I Hurler-Scheie and Scheie.
Summary: This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.
Published Date: December 01, 2012
Published By: National Institutes of Health