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Ornithine transcarbamylase deficiency (OTCD) is an X‐linked urea cycle defect associated with severe and usually fatal hyperammonemia. This study describes a patient with early onset lethal OTCD due to a known pathogenic variant (c.298+1G>A), as well as the novel autopsy finding of kernicterus with relatively low blood concentration of unconjugated bilirubin (UCB) (11.55 mg/dL). The patient was...
To report the clinical and laboratory characteristics of urea cycle disorder (UCD) patients at a tertiary care center in a developing country.Retrospective study of clinical and laboratory data of UCD patients.Thirty-seven UCD patients were studied, 31 symptomatic (high risk) patients (15 neonatal onset, 16 late onset) and 6 with positive neonatal screening. Argininosuccinate synthetase deficiency...
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