Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome)Symptoms, Doctors, Treatments, Advances & More
Learn About Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome)
View Main Condition: Mucopolysaccharidoses (MPS)
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body. The condition occurs almost exclusively in boys, although it has been reported in a few girls. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.
Variants (also called mutations) in the IDS gene cause MPS II. The IDS gene provides instructions for producing the I2S enzyme, which 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.
MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males.
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a variant would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that both copies of a gene would be altered, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
UCSF Benioff Children's Hospital Oakland
Paul Harmatz is a Pediatric Gastroenterologist practicing medicine in Oakland, California. Dr. Harmatz is rated as an Elite provider by MediFind in the treatment of Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome). He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome). Dr. Harmatz is board certified in American Board Of Pediatrics.
Joseph Muenzer is a Pediatrics provider practicing medicine in Chapel Hill, North Carolina. Dr. Muenzer is rated as an Elite provider by MediFind in the treatment of Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome). He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), and Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A). Dr. Muenzer is currently accepting new patients.
Barbara Burton is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Chicago, Illinois. Dr. Burton is rated as an Elite provider by MediFind in the treatment of Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome). She is also highly rated in 24 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Phenylketonuria (PKU), Mucopolysaccharidoses (MPS), and Cholesteryl Ester Storage Disease.
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.
Summary: The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.
Published Date: October 05, 2023
Published By: National Institutes of Health