Barbara Burton, MD, Professor of Pediatrics at Northwestern University Feinberg School of Medicine, discusses a recent study examining the effectiveness of idursulfase in young patients with mucopolysaccharidosis type II (MPS II).
MPS II is a rare genetic disorder of carbohydrate metabolism that occurs almost exclusively in males. It is characterized by distinctive facial features, a large head, hydrocephalus, hepatosplenomegaly, umbilical or inguinal hernia, and hearing loss. Individuals with this condition may additionally have joint deformities and heart abnormalities involving the valves. MPS II is caused by genetic changes in the IDS gene.
The objective of the study was to evaluate the effects of early enzyme replacement therapy (ERT) with intravenous idursulfase in male sibling pairs with MPS II. Idursulfase is a purified form of human iduronate-2-sulfatase. Data was collected from matched sibling pairs.
From this study it was observed that in younger siblings, some signs and symptoms of MPS II may be detected earlier. Because of this increased awareness of MPS II due to a family history in these cases, earlier diagnosis and treatment were possible for younger siblings, leading to better clinical outcomes. This emphasizes the importance of increasing disease awareness and newborn screening programs.
To learn more about MPS II and other rare metabolic disorders, visit https://checkrare.com/diseases/metabolic-disorders/
