Carbamoyl phosphate synthetase 1 (CPS-1) deficiency is a rare urea cycle disorder with an estimated prevalence of one in 150,000-200,000 live births. Patients often present with hyperammonemia shortly Show more
Carbamoyl phosphate synthetase 1 (CPS-1) deficiency is a rare urea cycle disorder with an estimated prevalence of one in 150,000-200,000 live births. Patients often present with hyperammonemia shortly after protein feeding in the early days of life, and early-onset type is associated with high mortality rate. We present here a case of a newborn male with a history of two deceased siblings whose ammonium level exceeded 200 μmol/L on the first day after birth, and who was started on dextrose infusion and ammonia-scavenging therapy after oral feeding was discontinued. Peritoneal dialysis was initiated after the patient's ammonia level exceeded 500 μmol/L. At the age of five months, the patient underwent hemodialysis due to elevated ammonia levels accompanied by lethargy. The patient's ammonia levels were successfully brought under control, and the patient underwent a liver transplantation at the age of six month, donated by the father. We present this case to emphasize the efficacy of liver transplantation from a parent carrying a CPS-1 deficiency. The authors believe that, with further support from future studies, the use of carglumic acid can improve the prognosis in the chronic management of CPS-1 deficiency. Show less
To identify genes and genetic markers associated with corneal astigmatism. A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,2 Show more
To identify genes and genetic markers associated with corneal astigmatism. A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for corneal and refractive astigmatism and the spherical equivalent were calculated for Europeans using LD score regression. The meta-analysis of all cohorts identified a genome-wide significant locus near the platelet-derived growth factor receptor alpha ( In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the Show less