Medical case narrative
A 29-year-old whose psychiatric history ended in a metabolic crisis
What happened
A 29-year-old man (unnamed in the published report) had a long history of psychiatric disorders — the report's abstract describes them as non-specific, treated over years without a metabolic explanation. What finally named his condition was not a workup anyone ordered for the psychiatry: it was a crisis. Valproic acid, a standard psychiatric and neurological medication, was given — and precipitated an acute hyperammonaemic crisis: ammonia, the toxin the liver normally clears, building up in his blood. Fuller specifics of his earlier psychiatric history circulate in excerpts of the report's full text, but they could not be confirmed against the accessible record for this entry, so they are not printed as fact; the entry stands on what the published abstract establishes.
What it looked like
Years of psychiatric illness that never received a medical explanation — and then a medical emergency: encephalopathy, worsening brain swelling, and seizures, in a man whose chart said psychiatric.
What the labs found
The crisis workup diagnosed late-onset ornithine transcarbamylase (OTC) deficiency — a urea cycle disorder, a genetic condition in which the body cannot clear ammonia properly. It can stay hidden for decades, and certain common medications, valproate among them, can unmask it catastrophically. Neither his peak ammonia value nor his gene variant appears in the accessible text of the report, and this entry does not borrow numbers from other patients' cases — a temptation the reviewers specifically flagged, because another fatal OTC case of the same age exists in the literature and is a different man.
What changed
Nothing could, in time. His course was complicated by progressive cerebral oedema, worsening encephalopathy, and seizures, and he died. The report discusses management strategies for such crises — lactulose, levocarnitine, ammonia-scavenger therapy, haemodialysis — as strategies; which of them he personally received could not be confirmed from the accessible text. The authors suggest, in hindsight, that his earlier symptoms may have been caused by the underlying metabolic disorder. That is their retrospective suggestion, printed as such — what is established is that the disorder was unmasked only at the fatal crisis.
The test that told the story
Blood ammonia testing during the crisis, and the metabolic workup that followed it — a test his years of psychiatric care had never run.
Sources: Kazmierski et al., BMJ Case Reports 2021;14:e241429 (primary case report, abstract); a 2025 conference abstract on a different, 19-year-old valproate/OTC patient citing this case as a similar report.