Hereditary orotic aciduria identified by newborn screening

Hereditary orotic aciduria identified by newborn screening

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...

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Main Authors: Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Elena Dumin, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, Shlomo Almashanu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Genetics
Subjects:
newborn screening (NBS)
hereditary orotic aciduria
uridine monophosphate synthase
orotic acid
megaloblastic anemia
neurodevelopmental disability
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1135267/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1135267/full

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