The initial evaluation of patients after positive newborn screening: Recommended algorithms leading to a confirmed diagnosis of pompe disease
Journal
Pediatrics
Journal Volume
140
Pages
e20160280D
Date Issued
2017
Author(s)
Abstract
Newborn screening (NBS) for Pompe disease is done through analysis of acid α-glucosidase (GAA) activity in dried blood spots. When GAA levels are below established cutoff values, then second-tier testing is required to confirm or refute a diagnosis of Pompe disease. This article in the "Newborn Screening, Diagnosis, and Treatment for Pompe Disease" guidance supplement provides recommendations for confirmatory testing after a positive NBS result indicative of Pompe disease is obtained. Two algorithms were developed by the Pompe Disease Newborn Screening Working Group, a group of international experts on both NBS and Pompe disease, based on whether DNA sequencing is performed as part of the screening method. Using the recommendations in either algorithm will lead to 1 of 3 diagnoses: Classic infantile-onset Pompe disease, late-onset Pompe disease, or no disease/not affected/carrier. Mutation analysis of the GAA gene is essential for confirming the biochemical diagnosis of Pompe disease. For NBS laboratories that do not have DNA sequencing capabilities, the responsibility of obtaining sequencing of the GAA gene will fall on the referral center. The recommendations for confirmatory testing and the initial evaluation are intended for a broad global audience. However, the Working Group recognizes that clinical practices, standards of care, and resource capabilities vary not only regionally, but also by testing centers. Individual patient needs and health status as well as local/regional insurance reimbursement programs and regulations also must be considered. ? 2017 by the American Academy of Pediatrics.
Other Subjects
alanine aminotransferase; alpha glucosidase; aspartate aminotransferase; creatine kinase; hexose tetrasaccharide; tetrasaccharide; unclassified drug; algorithm; Article; clinical protocol; DNA sequence; dried blood spot testing; enzyme assay; GAA gene; gene; gene sequence; genetic variability; genotype; glycogen storage disease type 2; health care policy; heart ventricle hypertrophy; human; laboratory test; muscle biopsy; newborn; newborn screening; onset age; patient assessment; practice guideline; priority journal; skin fibroblast; urine level; Wolff Parkinson White syndrome; algorithm; glycogen storage disease type 2; newborn screening; procedures; Algorithms; Glycogen Storage Disease Type II; Humans; Infant, Newborn; Neonatal Screening
Publisher
American Academy of Pediatrics
Type
journal article