[P1-198] Two Chinese siblings and their mother died in ornithine transcarbamylase deficiency
[Objective] Ornithine transcarbamylase (OTC) deficiency is a rare X-linked metabolic disease. In this study, two siblings and their mother died in hyperammonemia were investigated. [Methods] The proband, a girl, died in severe encephalopathy at the age of 2 years 8 months. Her mother died at the 15th after her second delivery. The newborn, a boy, died at the 4th day of life. To investigate the etiology, the clinical, biochemical and genetic studies were performed. [Results] The proband, a previously healthy girl, presented with recurrent vomiting and disturbance of consciousness from the age of 2 years 4 months. Liver dysfunction and severe hyperammonemia were found. Her blood amino acids and acyicarnitine profiles were normal. OTC deficiency was noticed because of orotic aciduria. Treatment of hemodialysis, low-protein diets with supplements of sodium benzoate, arginine, citrulline, levocarnitine were conducted. Unfortunately, she died in cerebral hernia. Her mother visited us at her gestational age of 27 weeks of next pregnancy. Prenatal diagnosis could not carry out because of unconfirmed genetic cause. c.275G>A (p.R92Q), a heterozygous mutation on the OTC gene, was detected in the proband and her mother by post-mortem analysis, which confirmed the diagnosis of OTC deficiency. [Conclusion] OTC deficiency affects male and female. For this patients with vomiting, coma and liver dysfunction, blood ammonia should be checked. Early biochemical and genetic assay are keys for diagnosis. Gene study is important for the genetic counseling of the family and prenatal diagnosis of the next sibling.
The firsrt two authers contributed equally to this paper.
The firsrt two authers contributed equally to this paper.