Use

Acylcarnitine analysis is crucial for diagnosing disorders of fatty acid oxidation and several organic acidurias. These conditions result in specific acyl-CoA accumulations, detectable via tandem mass spectrometry, essential for early diagnosis and treatment. Notably, more than 20 metabolic errors, including FAO disorders and organic acidurias, are identifiable. Clinical manifestations include hypoketotic hypoglycemia, liver issues, cardiomyopathy, and potential sudden death. Early diagnosis allows for dietary and therapeutic interventions, alleviating symptom severity and providing genetic counseling options.