A Case of Suspected Urea Cycle Dysfunction in a Patient with Unexplained Hyperammonemia

Perrone, Christopher; Makhija, Monica; Mitchell, Ann D.

doi:10.7191/neurol_bull.2013.1041

Cited by 2 publications

(1 citation statement)

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“…Patients are often entirely asymptomatic prior to presentation but may have a history of learning disabilities and behavioral difficulties [2]. Other documented triggers of HA include valproic acid [3], total parenteral nutrition (TPN) [4], corticosteroids [5], gastric bypass surgery [6], GI bleeding [7], malnutrition [8], and protein loading. We present a review of ten documented cases in which increased protein intake likely triggered HA in previously undiagnosed individuals with partial ornithine transcarbamylase deficiency (OTCD).…”

Section: Introductionmentioning

confidence: 99%

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature

Barkovich

Gropman

2020

Case Reports in Genetics

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While the urea cycle disorders (UCDs) classically present in the neonatal stage, they have become increasingly recognized as a rare cause of unexplained hyperammonemic encephalopathy in adults. Many metabolic triggers for late-onset UCDs have been described in the literature including excessive protein intake. In this case series, ten such documented cases are reviewed with analysis of patient demographic, protein load, treatment course, and patient outcome. Common delays in treatment include recognition of hyperammonemia as the cause of encephalopathy and initiation of hemodialysis. In only one case was a diet history used to raise suspicion for a metabolic derangement. Metabolic disorders remain an important consideration in adults presenting with encephalopathy not explained by more common etiologies, and recent and remote dietary history may provide valuable information.

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