NCC Knowledge Nugget Series: Pompe Disease ACT Sheet-Pompe Disease ACT Sheet

Pompe Disease ACT Sheet

Pdf Summary

The document is an ACT (Action and Clinical Thought) sheet that provides information on Pompe disease, a lysosomal disorder characterized by a deficiency of acid alpha-glucosidase enzyme. The sheet is intended as an educational resource for medical geneticists and clinicians.<br /><br />The sheet emphasizes that adherence to the guidelines is voluntary and does not guarantee a successful medical outcome. It notes that the recommendations provided are not exhaustive and that clinicians should use their professional judgment to determine the appropriate course of action for each patient.<br /><br />The immediate actions recommended for clinicians include informing the family of the newborn screening result, assessing the clinical status of the patient, consulting with a pediatric metabolic specialist, evaluating the newborn for cardiomyopathy, hypotonia, and respiratory status, and providing the family with information about Pompe disease and its management.<br /><br />Diagnostic evaluation for Pompe disease includes leukocyte acid alpha-glucosidase enzyme assay, urine hexose tetrasaccharides (Hex4) testing, and molecular genetic testing, which can confirm the diagnosis and predict the phenotype.<br /><br />It highlights that Pompe disease can present in various forms, ranging from rapidly progressive infantile forms to more slowly progressive later-onset forms, all of which are associated with progressive muscle weakness and respiratory insufficiency. Cardiomyopathy is primarily associated with the infantile form, and immediate cardiac evaluation is recommended for newborns.<br /><br />Enzyme replacement therapy (ERT) is available for both forms of Pompe disease and should be initiated as soon as possible under the guidance of a specialist. The timing of the therapy and the need for immune modulation depend on the patient's specific condition.<br /><br />The document provides additional resources for communicating newborn screening results, accessing gene reviews, finding genetics clinics, and genetic testing registries.<br /><br />Overall, the ACT sheet serves as a concise reference for clinicians, outlining the necessary steps, diagnostic procedures, and management considerations for Pompe disease.

Keywords

Pompe disease

lysosomal disorder

acid alpha-glucosidase enzyme deficiency

newborn screening

cardiomyopathy

diagnostic evaluation

enzyme replacement therapy

progressive muscle weakness

respiratory insufficiency

genetic testing