Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned

Carbamoyl phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive urea cycle disorder with varying presentations. Patients with a neonatal-onset phenotype are initially healthy but develop severe hyperammonemia days after birth and often have poor or lethal outcomes, while patients who pr...

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Detalles Bibliográficos
Autores principales: Lin, Hsin-Ti, Enchautegui-Colon, Yazmin, Huang, Yu-Ren, Zimmerman, Chelsea, DeMarzo, Danielle, Tsai, Anne Chun-Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709223/
https://www.ncbi.nlm.nih.gov/pubmed/36466970
http://dx.doi.org/10.1016/j.ymgmr.2022.100942

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709223/
https://www.ncbi.nlm.nih.gov/pubmed/36466970
http://dx.doi.org/10.1016/j.ymgmr.2022.100942

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