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The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients
Joint Authors
Zhou, Qingnv
Huang, Huafei
Ma, Li
Zhu, Tianwen
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-08-31
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
During Jan.
2016–Dec.
2019, nine Chinese patients from eight unrelated families were diagnosed with neonatal-onset UCDs by targeted panel sequencing or whole-exome sequencing (WES).
Their clinical manifestations, biochemical features, 180-day-age outcomes, and molecular genetic characteristics were reviewed retrospectively.
NGS-based tests revealed 7 patients diagnosed with ornithine transcarbamylase deficiency (OTCD) and 2 with carbamoylphosphate synthetase I deficiency (CPS1D).
The spectrum of the clinical presentation of nine affected individuals progressed from unspecific symptoms like poor feeding to somnolence, coma, and death.
All patients presented with an acute hyperammonemia.
The most robust metabolic pattern in OTCD was hyperglutaminemic hyperammonemia with high concentration of urine orotic acid, and it was reported in six patients.
Of ten variants found on the OTC gene and CPS1 gene, 3 were novel: (c.176T>C (p.L59P)) in the OTC gene, c.2938G>A (p.G980S) and c.3734T>A (p.L1245H) in the CPS1 gene.
There was a high mortality rate of 77.78% (7/9) for all the defects combined.
An OTC-deficient male and a CPS1-deficient female survived from episodes of hyperammonemia.
Although prompt recognition of UCD and the use of alternative pathway therapy in addition to provision of appropriate nutrition and dialysis improved survival, the overall outcomes for the neonatal-onset type are poor in China.
American Psychological Association (APA)
Zhou, Qingnv& Huang, Huafei& Ma, Li& Zhu, Tianwen. 2020. The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients. BioMed Research International،Vol. 2020, no. 2020, pp.1-11.
https://search.emarefa.net/detail/BIM-1134882
Modern Language Association (MLA)
Zhou, Qingnv…[et al.]. The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients. BioMed Research International No. 2020 (2020), pp.1-11.
https://search.emarefa.net/detail/BIM-1134882
American Medical Association (AMA)
Zhou, Qingnv& Huang, Huafei& Ma, Li& Zhu, Tianwen. The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-11.
https://search.emarefa.net/detail/BIM-1134882
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1134882