Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment

Am J Case Rep. 2022 Nov 15:23:e937658. doi: 10.12659/AJCR.937658.

Abstract

BACKGROUND Ornithine transcarbamylase deficiency (OTCD) is an X-linked semi-dominant disorder, causing possible fatal hyperammonemia. Late-onset OTCD can develop at any time from 2 months after birth to adulthood, accounting for 70% of all OTCDs. CASE REPORT A 35-year-old man with chronic headaches stated that since childhood he felt sick after eating meat. Fourteen days before hospital admission, he began receiving 60 mg/day of intravenous prednisolone for sudden deafness. The prednisolone was stopped 5 days before hospital admission. Four days later, he was transferred to our hospital because of confusion. On admission, he had hyperammonemia of 393 µmol/L. Because he became comatose 7 hours after admission, and his serum ammonia increased to 1071 µmol/L, we promptly started hemodialysis. Because his family history included 2 deceased infant boys, we suspected late-onset OTCD. On day 2 of hospitalization, we began administering ammonia-scavenging medications. Because he gradually regained consciousness, we stopped his hemodialysis on day 6. After his general condition improved, he was transferred to the previous hospital for rehabilitation on day 32. We definitively diagnosed him with late-onset OTCD due to the low plasma citrulline and high urinary orotic acid levels found during his hospitalization. CONCLUSIONS Clinicians should suspect urea cycle disorders, such as OTCD, when adult patients present with marked hyperammonemia without liver cirrhosis. Adult patients with marked hyperammonemia should immediately undergo hemodialysis to remove ammonia, regardless of causative diseases.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ammonia / therapeutic use
  • Child
  • Humans
  • Hyperammonemia* / etiology
  • Hyperammonemia* / therapy
  • Infant
  • Male
  • Ornithine Carbamoyltransferase / therapeutic use
  • Ornithine Carbamoyltransferase Deficiency Disease* / complications
  • Ornithine Carbamoyltransferase Deficiency Disease* / diagnosis
  • Ornithine Carbamoyltransferase Deficiency Disease* / therapy
  • Prednisolone / therapeutic use
  • Renal Dialysis / adverse effects

Substances

  • Ammonia
  • Prednisolone
  • Ornithine Carbamoyltransferase