Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening
Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (OTCD) and carbamoyl phosphate synthetase 1 deficie...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-10-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/6/4/77 |
| _version_ | 1797551562952802304 |
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| author | Tania Vasquez-Loarte John D. Thompson J. Lawrence Merritt |
| author_facet | Tania Vasquez-Loarte John D. Thompson J. Lawrence Merritt |
| author_sort | Tania Vasquez-Loarte |
| collection | DOAJ |
| description | Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (OTCD) and carbamoyl phosphate synthetase 1 deficiency (CPS1D) are screened in six and eight states in the United States. We analyzed current evidence to see if it supports inclusion of PUCDs in the NBS panels based upon prevention potential, medical, diagnostic, treatment, and public health rationales. A literature review was performed in PubMed using MESH terms for OTCD, CPS1D, and NAGSD. A systematic review was performed in the hallmark of NBS inclusion criteria. We reviewed 31 articles. Molecular and biochemical diagnosis is available to provide diagnostic evidence. Untreated PUCDs have a significant burden with considerable developmental delay and mortality that may improve with early treatment. Tandem mass spectrometry can be used for NBS for PUCDs; however, citrulline and glutamine alone are not specific. Medical treatments currently available for PUCDs meet existing medical, diagnostic, treatment, and public health rationales. Improvement in NBS algorithms to increase sensitivity and specificity will allow earlier diagnosis and treatment to potentially improve disability and mortality rates. |
| first_indexed | 2024-03-10T15:47:55Z |
| format | Article |
| id | doaj.art-82f2cb247ddf4f76ac37e5a2de2f8bc4 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-10T15:47:55Z |
| publishDate | 2020-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-82f2cb247ddf4f76ac37e5a2de2f8bc42023-11-20T16:20:07ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2020-10-01647710.3390/ijns6040077Considering Proximal Urea Cycle Disorders in Expanded Newborn ScreeningTania Vasquez-Loarte0John D. Thompson1J. Lawrence Merritt2Public Health Genetics, University of Washington, Seattle, WA 98195, USANewborn Screening Laboratory, Public Health Laboratories, Washington State Department of Health, Shoreline, WA 98155, USADepartment of Pediatrics, University of Washington, Seattle, WA 98105, USAProximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (OTCD) and carbamoyl phosphate synthetase 1 deficiency (CPS1D) are screened in six and eight states in the United States. We analyzed current evidence to see if it supports inclusion of PUCDs in the NBS panels based upon prevention potential, medical, diagnostic, treatment, and public health rationales. A literature review was performed in PubMed using MESH terms for OTCD, CPS1D, and NAGSD. A systematic review was performed in the hallmark of NBS inclusion criteria. We reviewed 31 articles. Molecular and biochemical diagnosis is available to provide diagnostic evidence. Untreated PUCDs have a significant burden with considerable developmental delay and mortality that may improve with early treatment. Tandem mass spectrometry can be used for NBS for PUCDs; however, citrulline and glutamine alone are not specific. Medical treatments currently available for PUCDs meet existing medical, diagnostic, treatment, and public health rationales. Improvement in NBS algorithms to increase sensitivity and specificity will allow earlier diagnosis and treatment to potentially improve disability and mortality rates.https://www.mdpi.com/2409-515X/6/4/77proximal urea cycle disordersornithine transcarbamylase deficiencycarbamoyl phosphate synthetase 1 deficiencyN-acetyl glutamate synthetase deficiencyneonatal screeningpublic health |
| spellingShingle | Tania Vasquez-Loarte John D. Thompson J. Lawrence Merritt Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening International Journal of Neonatal Screening proximal urea cycle disorders ornithine transcarbamylase deficiency carbamoyl phosphate synthetase 1 deficiency N-acetyl glutamate synthetase deficiency neonatal screening public health |
| title | Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening |
| title_full | Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening |
| title_fullStr | Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening |
| title_full_unstemmed | Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening |
| title_short | Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening |
| title_sort | considering proximal urea cycle disorders in expanded newborn screening |
| topic | proximal urea cycle disorders ornithine transcarbamylase deficiency carbamoyl phosphate synthetase 1 deficiency N-acetyl glutamate synthetase deficiency neonatal screening public health |
| url | https://www.mdpi.com/2409-515X/6/4/77 |
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