Is there any relationship between mutation in CPS1 Gene and pregnancy loss?
Hyperammonemia
Urea cycle disorder
Whole exome sequencing.
CPS1 deficiency
Journal
International journal of reproductive biomedicine
ISSN: 2476-4108
Titre abrégé: Int J Reprod Biomed
Pays: Iran
ID NLM: 101679102
Informations de publication
Date de publication:
May 2019
May 2019
Historique:
received:
29
05
2018
revised:
03
06
2018
accepted:
17
10
2018
entrez:
23
8
2019
pubmed:
13
6
2018
medline:
13
6
2018
Statut:
epublish
Résumé
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. We report a case of a two-day-old female neonate with lethal hyperammonemia. The newborn infant was presented with hyperammonemia (34.7 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.
Sections du résumé
BACKGROUND
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
METHODS
We report a case of a two-day-old female neonate with lethal hyperammonemia. The newborn infant was presented with hyperammonemia (34.7
CONCLUSION
CONCLUSIONS
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.
Identifiants
pubmed: 31435610
doi: 10.18502/ijrm.v17i5.4604
pmc: PMC6653490
pii:
doi:
Types de publication
Case Reports
Langues
eng
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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