Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?
Early-onset carnitine palmitoyltransferase II deficiency (CPT II deficiency) (OMIM 600650) can result in severe outcomes, which are often fatal in the neonatal to infantile period. CPT II deficiency is a primary target in the Maritime Newborn Screening Program. We report a case of neonatal-onset CPT...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-08-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/7/3/55 |
| _version_ | 1797518833061199872 |
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| author | Rachel Mador-House Zaiping Liu Sarah Dyack |
| author_facet | Rachel Mador-House Zaiping Liu Sarah Dyack |
| author_sort | Rachel Mador-House |
| collection | DOAJ |
| description | Early-onset carnitine palmitoyltransferase II deficiency (CPT II deficiency) (OMIM 600650) can result in severe outcomes, which are often fatal in the neonatal to infantile period. CPT II deficiency is a primary target in the Maritime Newborn Screening Program. We report a case of neonatal-onset CPT II deficiency identified through expanded newborn screening with tandem mass spectrometry. Identification through newborn screening led to early treatment interventions, avoidance of metabolic decompensation, and a better clinical outcome. Newborn screening for CPT II deficiency is highly sensitive and specific with no false positives identified. The only screen positive case detected identified a true positive case. This experience illustrates the importance of newborn screening for CPT II deficiency and demonstrates why reconsideration should be taken to add this disease as a primary newborn screening target. |
| first_indexed | 2024-03-10T07:35:00Z |
| format | Article |
| id | doaj.art-91b04f70cbd1409aaf4f1156bbf133ea |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-10T07:35:00Z |
| publishDate | 2021-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-91b04f70cbd1409aaf4f1156bbf133ea2023-11-22T13:34:06ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2021-08-01735510.3390/ijns7030055Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?Rachel Mador-House0Zaiping Liu1Sarah Dyack2IWK Health, Halifax, NS B3K 6R8, CanadaIWK Health, Halifax, NS B3K 6R8, CanadaIWK Health, Halifax, NS B3K 6R8, CanadaEarly-onset carnitine palmitoyltransferase II deficiency (CPT II deficiency) (OMIM 600650) can result in severe outcomes, which are often fatal in the neonatal to infantile period. CPT II deficiency is a primary target in the Maritime Newborn Screening Program. We report a case of neonatal-onset CPT II deficiency identified through expanded newborn screening with tandem mass spectrometry. Identification through newborn screening led to early treatment interventions, avoidance of metabolic decompensation, and a better clinical outcome. Newborn screening for CPT II deficiency is highly sensitive and specific with no false positives identified. The only screen positive case detected identified a true positive case. This experience illustrates the importance of newborn screening for CPT II deficiency and demonstrates why reconsideration should be taken to add this disease as a primary newborn screening target.https://www.mdpi.com/2409-515X/7/3/55carnitineCPT II deficiencytransferasenewbornscreeningtreatment |
| spellingShingle | Rachel Mador-House Zaiping Liu Sarah Dyack Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target? International Journal of Neonatal Screening carnitine CPT II deficiency transferase newborn screening treatment |
| title | Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target? |
| title_full | Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target? |
| title_fullStr | Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target? |
| title_full_unstemmed | Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target? |
| title_short | Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target? |
| title_sort | detection of early onset carnitine palmitoyltransferase ii deficiency by newborn screening should cpt ii deficiency be a primary disease target |
| topic | carnitine CPT II deficiency transferase newborn screening treatment |
| url | https://www.mdpi.com/2409-515X/7/3/55 |
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