A A Pract. 2026 Aug 12;20(8):e02265. doi: 10.1213/XAA.0000000000002265. eCollection 2026 Aug 1.
ABSTRACT
Carnitine deficiency syndromes are a group of rare metabolic disorders characterized by impaired β-oxidation and increased reliance on glucose during metabolic stress. Published literature on anesthetic management in patients with congenital carnitine deficiency is limited. We report the case of a 10-year-old boy with carnitine deficiency undergoing bronchoscopy, tonsillectomy, and adenoidectomy. A nontriggering anesthetic was used due to concern for malignant hyperthermia risk with carnitine palmitoyltransferase deficiency; a diagnosis used interchangeably with primary carnitine deficiency for this patient. This case documents successful anesthetic management with meticulous metabolic support in a patient with a complex metabolic disorder.
PMID:42593425 | DOI:10.1213/XAA.0000000000002265