Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations
The practice of newborn screening has been in place in the USA since the 1960s, with individual states initially screening for different numbers of disorders. In the early 2000s many efforts were made to standardize the various disorders being screened. Currently, there are at least 34 disorders tha...
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doaj-60c7a54f1daf49dcb17d388cef8f1aab2020-11-24T20:43:40ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2016-11-01241210.3390/ijns2040012ijns2040012Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and RecommendationsKatherine G. Langley0Elizabeth N. Chisholm1Brooke B. Spangler2Erin T. Strovel3Jennifer O. Macdonald4Samantha Schrier Vergano5Division of Medical Genetics and Metabolism, Children’s Hospital of The King’s Daughters, Norfolk, VA 23507, USADivision of Medical Genetics and Metabolism, Children’s Hospital of The King’s Daughters, Norfolk, VA 23507, USADivision of Medical Genetics and Metabolism, Children’s Hospital of The King’s Daughters, Norfolk, VA 23507, USADivision of Human Genetics, University of Maryland School of Medicine, Baltimore, MD 21201, USADepartment of Health, Commonwealth of Virginia, Richmond, VA 23219Division of Medical Genetics and Metabolism, Children’s Hospital of The King’s Daughters, Norfolk, VA 23507, USAThe practice of newborn screening has been in place in the USA since the 1960s, with individual states initially screening for different numbers of disorders. In the early 2000s many efforts were made to standardize the various disorders being screened. Currently, there are at least 34 disorders that each state is mandated to include on their screening panel. Of those 34 disorders, the majority are inborn errors of metabolism (IEM) which include urea cycle disorders (UCD), citrullinemia (CIT) and argininosuccinic aciduria (ASA), as well as a number of fatty acid oxidation disorders. We present here four cases of infants who had critical newborn screens (NBS) in the Commonwealth of Virginia and underwent genetic testing because their clinical presentation and follow-up laboratory studies were not consistent with the disorder that was flagged by NBS. These newborns were found to be carriers for two different IEMs (in three cases) or compound heterozygotes (in one case). Currently no guidelines exist with respect to the appropriate way to manage these children who may or may not be symptomatic in the newborn period. We propose some general recommendations for management based on our experience with these four probands, and discuss the necessity for further conversation and collaboration between physicians encountering these not-so-infrequent presentations.http://www.mdpi.com/2409-515X/2/4/12newborn screeninginborn errors of metabolismhyperammonemiafatty acid oxidation defecturea cycle disorder |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Katherine G. Langley Elizabeth N. Chisholm Brooke B. Spangler Erin T. Strovel Jennifer O. Macdonald Samantha Schrier Vergano |
spellingShingle |
Katherine G. Langley Elizabeth N. Chisholm Brooke B. Spangler Erin T. Strovel Jennifer O. Macdonald Samantha Schrier Vergano Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations International Journal of Neonatal Screening newborn screening inborn errors of metabolism hyperammonemia fatty acid oxidation defect urea cycle disorder |
author_facet |
Katherine G. Langley Elizabeth N. Chisholm Brooke B. Spangler Erin T. Strovel Jennifer O. Macdonald Samantha Schrier Vergano |
author_sort |
Katherine G. Langley |
title |
Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations |
title_short |
Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations |
title_full |
Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations |
title_fullStr |
Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations |
title_full_unstemmed |
Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations |
title_sort |
critical newborn screens in double heterozygotes of inborn errors of metabolism—a clinical report and recommendations |
publisher |
MDPI AG |
series |
International Journal of Neonatal Screening |
issn |
2409-515X |
publishDate |
2016-11-01 |
description |
The practice of newborn screening has been in place in the USA since the 1960s, with individual states initially screening for different numbers of disorders. In the early 2000s many efforts were made to standardize the various disorders being screened. Currently, there are at least 34 disorders that each state is mandated to include on their screening panel. Of those 34 disorders, the majority are inborn errors of metabolism (IEM) which include urea cycle disorders (UCD), citrullinemia (CIT) and argininosuccinic aciduria (ASA), as well as a number of fatty acid oxidation disorders. We present here four cases of infants who had critical newborn screens (NBS) in the Commonwealth of Virginia and underwent genetic testing because their clinical presentation and follow-up laboratory studies were not consistent with the disorder that was flagged by NBS. These newborns were found to be carriers for two different IEMs (in three cases) or compound heterozygotes (in one case). Currently no guidelines exist with respect to the appropriate way to manage these children who may or may not be symptomatic in the newborn period. We propose some general recommendations for management based on our experience with these four probands, and discuss the necessity for further conversation and collaboration between physicians encountering these not-so-infrequent presentations. |
topic |
newborn screening inborn errors of metabolism hyperammonemia fatty acid oxidation defect urea cycle disorder |
url |
http://www.mdpi.com/2409-515X/2/4/12 |
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