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- Title
Is there any relationship between mutation in CPS1 Gene and pregnancy loss?
- Authors
Talebi, Mehrdad; Vahidi Mehrjardi, Mohammad Yahya; Kalhor, Kambiz; Dehghani, Mohammadreza
- 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 µg/ml; reference range 1.1-1.9). In Plasma amino acid analysis, there was a significant elevated levels of alanine (3,004 µmol/L; reference range, 236-410 µmol/L), glutamine (2,256 µmol/L; reference range, 20-107 µmol/L), asparagine (126 µmol/L; reference range, 30-69 µmol/L), glutamic acid (356 µmol/L; reference range, 14-192 µmol/L), aspartic acid (123 µmol/L; reference range, 0-24 µmol/L), and lysine (342 µmol/L; reference range, 114-269 µmol/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.
- Subjects
AMINO acid analysis; NEWBORN infants; GENETIC disorders; CARBAMOYL phosphate synthase; HYPERAMMONEMIA; GENETIC mutation; NUCLEOTIDE sequencing; ENZYME deficiency
- Publication
International Journal of Reproductive Biomedicine, 2019, Vol 17, Issue 5, p371
- ISSN
2476-4108
- Publication type
Article
- DOI
10.18502/ijrm.v17i5.4604