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◆ Case reports in critical care2026-01-01

A Case of Suspected Multiple Acyl-CoA Dehydrogenase Deficiency-Induced Encephalopathy.

Molly Hirsh, Lauren McCroskie, Julia Weaver, Kathryn Humes, Nicola M Zetola

原始摘要(英文原文)· Original abstract
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare inherited disorder that disrupts fatty acid metabolism. We report a case of a patient who presented with confusion, undifferentiated shock, and rapidly worsening lactic acidosis and hyperammonemia, unexplained in severity by primary liver dysfunction. Metabolic investigations suggested the probable cause was late-onset MADD, likely triggered by pneumonia and exacerbated by early administration of fatty acid-containing sedatives. Early recognition of MADD and other metabolic disorders, whether inherited or acquired, is crucial for timely diagnosis and management. Unexplained hyperammonemia and other metabolic abnormalities should prompt clinicians to consider these rare conditions.
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A Case of Suspected Multiple Acyl-CoA Dehydrogenase Deficiency-Induced Encephalopathy. — 科研速览 Science Skim