TY - JOUR
T1 - Hereditary orotic aciduria identified by newborn screening
AU - Staretz-Chacham, Orna
AU - Damseh, Nadirah S.
AU - Daas, Suha
AU - Abu Salah, Nasser
AU - Anikster, Yair
AU - Barel, Ortal
AU - Dumin, Elena
AU - Fattal-Valevski, Aviva
AU - Falik-Zaccai, Tzipora C.
AU - Hershkovitz, Eli
AU - Josefsberg, Sagi
AU - Landau, Yuval
AU - Lerman-Sagie, Tally
AU - Mandel, Hanna
AU - Rock, Rachel
AU - Rostami, Nira
AU - Saraf-Levy, Talya
AU - Shaul Lotan, Nava
AU - Spiegel, Ronen
AU - Tal, Galit
AU - Ulanovsky, Igor
AU - Wilnai, Yael
AU - Korman, Stanley H.
AU - Almashanu, Shlomo
N1 - Publisher Copyright:
Copyright © 2023 Staretz-Chacham, Damseh, Daas, Abu Salah, Anikster, Barel, Dumin, Fattal-Valevski, Falik-Zaccai, Hershkovitz, Josefsberg, Landau, Lerman-Sagie, Mandel, Rock, Rostami, Saraf-Levy, Shaul Lotan, Spiegel, Tal, Ulanovsky, Wilnai, Korman and Almashanu.
PY - 2023
Y1 - 2023
N2 - Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabilities, and crystalluria. Newborn screening has the potential to identify and enable treatment of affected individuals before they become significantly ill. Methods: Measuring orotic acid as part of expanded newborn screening using flow injection analysis tandem mass spectrometry. Results: Since the addition of orotic acid measurement to the Israeli routine newborn screening program, 1,492,439 neonates have been screened. The screen has identified ten Muslim Arab newborns that remain asymptomatic so far, with DBS orotic acid elevated up to 10 times the upper reference limit. Urine organic acid testing confirmed the presence of orotic aciduria along with homozygous variations in the UMPS gene. Conclusion: Newborn screening measuring of orotic acid, now integrated into the routine tandem mass spectrometry panel, is capable of identifying neonates with hereditary orotic aciduria.
AB - Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabilities, and crystalluria. Newborn screening has the potential to identify and enable treatment of affected individuals before they become significantly ill. Methods: Measuring orotic acid as part of expanded newborn screening using flow injection analysis tandem mass spectrometry. Results: Since the addition of orotic acid measurement to the Israeli routine newborn screening program, 1,492,439 neonates have been screened. The screen has identified ten Muslim Arab newborns that remain asymptomatic so far, with DBS orotic acid elevated up to 10 times the upper reference limit. Urine organic acid testing confirmed the presence of orotic aciduria along with homozygous variations in the UMPS gene. Conclusion: Newborn screening measuring of orotic acid, now integrated into the routine tandem mass spectrometry panel, is capable of identifying neonates with hereditary orotic aciduria.
KW - hereditary orotic aciduria
KW - megaloblastic anemia
KW - neurodevelopmental disability
KW - newborn screening (NBS)
KW - orotic acid
KW - uridine monophosphate synthase
UR - http://www.scopus.com/inward/record.url?scp=85158096076&partnerID=8YFLogxK
U2 - 10.3389/fgene.2023.1135267
DO - 10.3389/fgene.2023.1135267
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C2 - 36999056
AN - SCOPUS:85158096076
SN - 1664-8021
VL - 14
JO - Frontiers in Genetics
JF - Frontiers in Genetics
M1 - 1135267
ER -