Is there any relationship between mutation in CPS1 Gene and pregnancy loss?
Abstract Background Carbamoyl phosphate synthetase 1 (CPS1) is a liver-specific enzyme with the lowest enzymatic rate, which determines the overall rate of the other reactions in the pathway that converts ammonia to carbamoyl phosphate in the first step of the urea cycle. Carbamoyl phosphat...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Shahid Sadoughi University of Medical Sciences
2019-05-01
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| Series: | International Journal of Reproductive BioMedicine |
| Subjects: | |
| Online Access: | https://doi.org/10.18502/ijrm.v17i5.4604 |
| _version_ | 1818662166278963200 |
|---|---|
| author | Mehrdad Talebi Mohammad Yahya Vahidi Mehrjardi Kambiz Kalhor Mohammadreza Dehghani |
| author_facet | Mehrdad Talebi Mohammad Yahya Vahidi Mehrjardi Kambiz Kalhor Mohammadreza Dehghani |
| author_sort | Mehrdad Talebi |
| collection | DOAJ |
| description | Abstract
Background
Carbamoyl phosphate synthetase 1 (CPS1) is a liver-specific enzyme with the lowest enzymatic rate, which determines the overall rate of the other reactions in the pathway that converts ammonia to carbamoyl phosphate in the first step of the urea cycle. Carbamoyl phosphate synthetase 1 deficiency (CPS1D), which usually presents as lethal hyperammonemia, is a rare autosomal recessive hereditary disease.
Case
We report a case of a two-day-old female neonate with lethal hyperammonemia. The newborn infant was presented with hyperammonemia (34.7
μ
g/ml; reference range 1.1–1.9). In Plasma amino acid analysis, there was a significant elevated levels of alanine (3,004
μ
mol/L; reference range, 236–410
μ
mol/L), glutamine (2,256
μ
mol/L; reference range, 20–107
μ
mol/L), asparagine (126
μ
mol/L; reference range, 30–69
μ
mol/L), glutamic acid (356
μ
mol/L; reference range, 14–192
μ
mol/L), aspartic acid (123
μ
mol/L; reference range, 0–24
μ
mol/L), and lysine (342
μ
mol/L; reference range, 114–269
μ
mol/L). We cannot diagnose the urea cycle disorder (UCD) CPS1D properly only based on the quantity of biochemical intermediary metabolites to exclude other UCDs with similar symptoms. Following next generation sequencing determined one homozygous mutation in CPS1 gene and also this mutation was determined in her parents. The identified mutation was c.2758G
>
C; p.Asp920His, in the 23 exon of CPS1. This novel homozygous mutation had not been reported previously.
Conclusion
We applied whole exome sequencing successfully to diagnose the patient with CPS1D in a clinical setting. This result supports the clinical applicability of whole exome sequencing for cost-effective molecular diagnosis of UCDs. |
| first_indexed | 2024-12-17T04:56:38Z |
| format | Article |
| id | doaj.art-c61e618c3c8748099aafba2e82e9fe9b |
| institution | Directory Open Access Journal |
| issn | 2476-3772 |
| language | English |
| last_indexed | 2024-12-17T04:56:38Z |
| publishDate | 2019-05-01 |
| publisher | Shahid Sadoughi University of Medical Sciences |
| record_format | Article |
| series | International Journal of Reproductive BioMedicine |
| spelling | doaj.art-c61e618c3c8748099aafba2e82e9fe9b2022-12-21T22:02:41ZengShahid Sadoughi University of Medical SciencesInternational Journal of Reproductive BioMedicine2476-37722019-05-011737137410.18502/ijrm.v17i5.4604Is there any relationship between mutation in CPS1 Gene and pregnancy loss?Mehrdad Talebi0Mohammad Yahya Vahidi Mehrjardi1Kambiz Kalhor2Mohammadreza Dehghani3Reproductive and Genetic Unit, Yazd Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.Reproductive and Genetic Unit, Yazd Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.Reproductive and Genetic Unit, Yazd Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.Reproductive and Genetic Unit, Yazd Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.Abstract Background Carbamoyl phosphate synthetase 1 (CPS1) is a liver-specific enzyme with the lowest enzymatic rate, which determines the overall rate of the other reactions in the pathway that converts ammonia to carbamoyl phosphate in the first step of the urea cycle. Carbamoyl phosphate synthetase 1 deficiency (CPS1D), which usually presents as lethal hyperammonemia, is a rare autosomal recessive hereditary disease. Case We report a case of a two-day-old female neonate with lethal hyperammonemia. The newborn infant was presented with hyperammonemia (34.7 μ g/ml; reference range 1.1–1.9). In Plasma amino acid analysis, there was a significant elevated levels of alanine (3,004 μ mol/L; reference range, 236–410 μ mol/L), glutamine (2,256 μ mol/L; reference range, 20–107 μ mol/L), asparagine (126 μ mol/L; reference range, 30–69 μ mol/L), glutamic acid (356 μ mol/L; reference range, 14–192 μ mol/L), aspartic acid (123 μ mol/L; reference range, 0–24 μ mol/L), and lysine (342 μ mol/L; reference range, 114–269 μ mol/L). We cannot diagnose the urea cycle disorder (UCD) CPS1D properly only based on the quantity of biochemical intermediary metabolites to exclude other UCDs with similar symptoms. Following next generation sequencing determined one homozygous mutation in CPS1 gene and also this mutation was determined in her parents. The identified mutation was c.2758G > C; p.Asp920His, in the 23 exon of CPS1. This novel homozygous mutation had not been reported previously. Conclusion We applied whole exome sequencing successfully to diagnose the patient with CPS1D in a clinical setting. This result supports the clinical applicability of whole exome sequencing for cost-effective molecular diagnosis of UCDs.https://doi.org/10.18502/ijrm.v17i5.4604cps1 deficiencyhyperammonemiaurea cycle disorderwhole exome sequencing. |
| spellingShingle | Mehrdad Talebi Mohammad Yahya Vahidi Mehrjardi Kambiz Kalhor Mohammadreza Dehghani Is there any relationship between mutation in CPS1 Gene and pregnancy loss? International Journal of Reproductive BioMedicine cps1 deficiency hyperammonemia urea cycle disorder whole exome sequencing. |
| title | Is there any relationship between mutation in CPS1 Gene and pregnancy loss? |
| title_full | Is there any relationship between mutation in CPS1 Gene and pregnancy loss? |
| title_fullStr | Is there any relationship between mutation in CPS1 Gene and pregnancy loss? |
| title_full_unstemmed | Is there any relationship between mutation in CPS1 Gene and pregnancy loss? |
| title_short | Is there any relationship between mutation in CPS1 Gene and pregnancy loss? |
| title_sort | is there any relationship between mutation in cps1 gene and pregnancy loss |
| topic | cps1 deficiency hyperammonemia urea cycle disorder whole exome sequencing. |
| url | https://doi.org/10.18502/ijrm.v17i5.4604 |
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