Stoelting's Anesthesia and Co-Existing Disease · 8th Edition
Inborn Errors of Metabolism
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ⓘ This audio and summary are simplified educational interpretations and are not a substitute for the original text.
Key Takeaways
- Barbiturates, etomidate, and ketamine are contraindicated in acute intermittent porphyria as they precipitate severe porphyria crises with abdominal pain and respiratory compromise.
- Propofol, volatile anesthetics, and most opioids provide safe anesthetic alternatives for porphyria patients when avoidable triggers are eliminated.
- Lesch-Nyhan syndrome requires careful airway management due to orofacial scarring from self-mutilation and temporomandibular joint gout involvement restricting access.
- Type I glycogen storage disease demands continuous glucose infusion and metabolic acidosis monitoring during perioperative fasting to prevent severe hypoglycemia.
- Hemochromatosis complications including cirrhosis, diabetes, and cardiomyopathy necessitate hepatic and cardiac evaluation with strict avoidance of blood transfusions.
- Wilson disease presents hepatic dysfunction and dystonia requiring modified anesthetic agent selection accounting for impaired drug metabolism and aspiration risk.
Chapter SummaryWhat this audio overview covers
Inborn errors of metabolism represent a diverse group of genetic disorders characterized by deficiencies in specific enzymes that disrupt normal biochemical pathways, creating perioperative challenges that demand careful anesthetic planning and drug selection. Acute intermittent porphyria and other acute porphyrias pose perhaps the most dramatic perioperative risk, as certain anesthetic agents including barbiturates, etomidate, and ketamine can trigger life-threatening acute attacks marked by severe abdominal pain, autonomic instability, and potentially fatal respiratory muscle weakness. Management requires scrupulous avoidance of triggering drugs, perioperative glucose administration, and awareness that propofol, volatile anesthetics, and most opioids remain safe alternatives. Purine metabolism disorders such as Lesch-Nyhan syndrome present unique airway management challenges due to orofacial scarring from self-mutilation and increased aspiration risk from associated dysphagia, while gout-related temporomandibular joint involvement may limit laryngoscopic access. Glycogen storage diseases, particularly Type I, necessitate aggressive glucose supplementation and continuous monitoring for metabolic acidosis during even brief periods without oral intake. Hemochromatosis demands careful hepatic and cardiac assessment since iron accumulation produces cirrhosis, diabetes, and cardiomyopathy, with particular attention to avoiding transfusions that exacerbate total body iron burden. Wilson disease complicates anesthetic management through hepatic dysfunction, neuropsychiatric manifestations including severe dystonia, and significant aspiration risk from dysphagia, requiring careful drug selection and consideration of altered hepatic metabolism. Across all these conditions, the fundamental principle involves detailed preoperative evaluation of end-organ involvement, strategic drug selection based on metabolic capabilities, prevention of fasting states and dehydration, and heightened vigilance for perioperative complications specific to each disorder.