Pediatrics 2017 Jul;140(Suppl 1):S14-S23
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina
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Pediatrics 2017 Jul;140(Suppl 1):S4-S13
Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA) and Department of Genetics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Read More
Mol Genet Metab 2012 Jul 24;106(3):281-6. Epub 2012 Apr 24.
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Background: Pompe disease is caused by a deficiency in acid α-glucosidase (GAA) and results in progressive, debilitating, and often life-threatening symptoms. Newborn screening has led to the early diagnosis of Pompe disease, but the best algorithm for screening has not yet been established.
Materials And Methods: GAA and neutral α-glucosidase (NAG) activities in dried blood spots (DBSs) were assayed using 4-methylumbelliferyl-β-d-glucopyranoside as the substrate. Read More
Pediatrics 2017 Jul;140(Suppl 1):S46-S50
Department of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, New Jersey
An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient's health care team so they can make informed decisions. In addition to providing important information about the inheritance and genetic risks, genetic counseling also provides information about Pompe disease and available treatments and resources and should be offered to families with an affected child and all adults diagnosed with Pompe disease. Read More
Mol Genet Metab 2011 Dec 10;104(4):560-5. Epub 2011 Sep 10.
Department of Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan.
Pompe disease is caused by a deficiency of acid alpha-glucosidase (GAA) that results in glycogen accumulation, primarily in muscle. Newborn screening (NBS) for Pompe disease has been initiated in Taiwan and is reportedly successful. However, the comparatively high frequency of pseudodeficiency allele makes NBS for Pompe disease complicated in Taiwan. Read More