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NCC Knowledge Nugget Series: MPS II ACT Sheet
MPS II ACT Sheet
MPS II ACT Sheet
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Pdf Summary
The ACT Sheet provided is a resource for medical geneticists and clinicians to assist in providing quality medical services. It is voluntary to adhere to this resource and does not guarantee a successful outcome. Clinicians should use their professional judgment and consider the specific clinical circumstances when determining the appropriateness of procedures and tests. They should also consider documenting the reasons for using specific procedures/tests and stay updated with medical and scientific information that becomes available after the adoption of the resource. Intellectual property interests may also restrict the performance of certain tests and procedures.<br /><br />The specific focus of this ACT Sheet is on newborn screening for iduronate 2-sulfatase deficiency, also known as Mucopolysaccharidosis Type II (MPS II) or Hunter syndrome, and its differential diagnosis with multiple sulfatase deficiency (MSD). MPS II is caused by a deficiency of the iduronate 2-sulfatase enzyme, leading to the accumulation of mucopolysaccharides. MSD is an extremely rare condition caused by an enzyme deficiency affecting the activation of iduronate 2-sulfatase and other sulfatases. Infants with MPS II are usually asymptomatic, while MSD may present with symptoms like intrauterine growth restriction, respiratory distress, corneal clouding, and dysmorphic features.<br /><br />The recommended actions for clinicians include informing the family of the screening results, consulting with a pediatric metabolic specialist, evaluating the newborn, initiating confirmatory/diagnostic testing and management, and providing the family with information about MPS II and MSD.<br /><br />Diagnostic evaluation involves measuring enzyme activity and urine levels of GAGs and sulfatides. Decreased iduronate 2-sulfatase activity with normal arylsulfatase A activity suggests MPS II, while reduced activity and elevated GAGs and sulfatides indicate MSD. Molecular genetic testing can confirm and differentiate these diagnoses.<br /><br />Clinicians should be aware that MPS II in males usually manifests with progressive symptoms after the first year of life. Treatment involves enzyme replacement therapy and symptomatic support. MSD is a neurodegenerative disease with variable severity, and treatment is primarily supportive.<br /><br />Additional resources, such as communication guides for newborn screening results and information for families, as well as directories for genetic clinics and genetic testing registries, are provided for further reference.<br /><br />Overall, this ACT Sheet provides guidance on newborn screening for MPS II and its differential diagnosis, as well as additional resources for clinicians to assist in the diagnosis and management of these conditions.
Keywords
ACT Sheet
medical geneticists
clinicians
newborn screening
MPS II
Hunter syndrome
MSD
enzyme deficiency
diagnostic testing
symptomatic support
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