SHM Converge Scientific Abstract ePoster Gallery-Why So Strange?

Pdf Summary

A 41-year-old man presented to the ED with “odd behavior” after several days of malaise, nausea, fatigue, poor oral intake, and gait instability following an uncomplicated elective polypectomy. His initial outside evaluation was treated as dehydration, but symptoms recurred and progressed to confusion, bizarre behavior, and amnesia. In the ED, he had a normal neurologic exam but elevated ammonia, which worsened during hospitalization and prompted ICU transfer.<br /><br />He was ultimately diagnosed with late-onset ornithine transcarbamylase (OTC) deficiency, the most common urea cycle disorder. OTC deficiency is X-linked and can present in childhood, but some patients first develop symptoms in adulthood, especially during catabolic stress such as surgery, fasting, or illness. In this case, genetic evaluation and family history were key; the patient’s maternal lineage revealed multiple unexplained early male deaths, and his mutation was linked to a well-documented family pedigree with many affected relatives.<br /><br />Treatment focused on rapid reduction of ammonia and prevention of further catabolism. He received dextrose-containing IV fluids and lipid infusion initially, with consideration of ammonul, a nitrogen-scavenging therapy, as ammonia levels rose. After symptom improvement, he was discharged on long-term outpatient therapy including arginine, L-citrulline, and sodium phenylbutyrate, along with a low-protein diet.<br /><br />Key lessons emphasized were: new-onset psychiatric or neurologic symptoms may reflect an inherited metabolic disorder; prompt recognition of hyperammonemia is critical to prevent brain injury or death; and patients with OTC deficiency should have an emergency response plan, avoid fasting and catabolic triggers, and take medications and dietary precautions to prevent recurrence.

Asset Subtitle

Alicia Kilian

Meta Tag

Author List Alicia Kilian

Category Clinical Vignettes

Concept Altered Mental Status

Concept Late-Onset Ornithine Transcarbamylase Deficiency

Concept Hyperammonemia

Concept OTC Deficiency

Concept Behavioral Changes

Distinguished Non-Finalist

Presenter Organization University of Iowa Healthcare

Presenting Author Alicia Kilian

Track Adult

Keywords

ornithine transcarbamylase deficiency

hyperammonemia

urea cycle disorder

adult-onset metabolic disorder

catabolic stress

surgery trigger

ammonia elevation

nitrogen scavenger therapy

low-protein diet

X-linked inheritance

Altered Mental Status

Late-Onset Ornithine Transcarbamylase Deficiency

Hyperammonemia

OTC Deficiency

Behavioral Changes