Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report

Experimental and Therapeutic Medicine
Jun XuFurong Huang

Abstract

The aim of the present report was to describe the clinical presentation, diagnosis, and treatment of a case of carbamoyl phosphate synthetase 1 (CPS1) deficiency in a neonate, specifically, a 3 day-old female who visited Hunan Provincial People's Hospital due to anorexia and lethargy for 1 day. Physical and laboratory examination, and MRI were undertaken. Whole exome sequencing (WES) was applied for molecular etiology identification. Sanger sequencing was utilized to validate the variants detected by WES. Structural modeling was conducted for pathogenic analysis. Clinical examination revealed increased intracranial pressure, hyperammonemia, reduced citrulline, and increased glutamic acid levels. WES identified compound heterozygosity of c.713G>C, p.Arg238Pro and c.2339G>A, p.Arg780His in CPS1 (NCBI reference sequence, NM_001875.4) as candidate pathogenic variants. Sanger sequencing validated these variants. Structural modeling further confirmed the pathogenesis of these mutations. In conclusion, CPS1 deficiency in neonates is a serious condition that may be misdiagnosed due to severe infection. WES can be a helpful tool in facilitating the diagnosis of this disease.

References

Feb 21, 2007·Journal of Human Genetics·Keiji KurokawaTatsutoshi Nakahata
Nov 24, 2007·Journal of Inherited Metabolic Disease·R H Singh
Mar 17, 2010·Molecular Genetics and Metabolism·Olivier Braissant
Nov 27, 2010·Pediatric Transplantation·Mureo KasaharaReiko Horikawa
May 31, 2012·Orphanet Journal of Rare Diseases·Johannes HäberleCarlo Dionisi-Vici
Oct 12, 2012·PloS One·Yongwook ChoiAgnes P Chan
Jan 15, 2013·Current Protocols in Human Genetics·Ivan AdzhubeiShamil R Sunyaev
Oct 22, 2013·JAMA : the Journal of the American Medical Association·UNKNOWN World Medical Association
Apr 1, 2014·Nature Methods·Jana Marie SchwarzDominik Seelow
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Apr 9, 2015·World Journal of Gastroenterology : WJG·Francesco Giuseppe FoschiGiuseppe Francesco Stefanini
May 6, 2015·PloS One·Laurel L BallantyneColin D Funk
Aug 20, 2016·Orphanet Journal of Rare Diseases·Caroline UnsinnJohannes Häberle
May 5, 2017·Journal of Molecular Neuroscience : MN·Danqun JinXiu-An Yang
Dec 28, 2017·Proceedings of the National Academy of Sciences of the United States of America·Leandro R SoriaNicola Brunetti-Pierri
Apr 16, 2019·Journal of Inherited Metabolic Disease·Johannes HäberleCarlo Dionisi-Vici

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