Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening
| Autor: | John D. Thompson, J. Lawrence Merritt, Tania C. Vasquez-Loarte |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Pediatrics Early detection Biochemical diagnosis Review 030105 genetics & heredity 03 medical and health sciences 0302 clinical medicine NBS Immunology and Microbiology (miscellaneous) Intellectual disability medicine neonatal screening proximal urea cycle disorders Ornithine transcarbamylase deficiency Newborn screening business.industry newborn screening Mortality rate Public health public health lcsh:RJ1-570 Obstetrics and Gynecology food and beverages lcsh:Pediatrics N-acetyl glutamate synthetase deficiency medicine.disease ornithine transcarbamylase deficiency Urea cycle Pediatrics Perinatology and Child Health business 030217 neurology & neurosurgery carbamoyl phosphate synthetase 1 deficiency |
| Zdroj: | International Journal of Neonatal Screening International Journal of Neonatal Screening, Vol 6, Iss 77, p 77 (2020) |
| ISSN: | 2409-515X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|