ABMGG Medical Biochemical Genetics

Fatty Acid Oxidation DefectsEnglish
Exam overview

Practice session

A previously well 14-month-old develops vomiting and hypoketotic hypoglycemia (glucose 35 mg/dL) after a 24-hour gastroenteritis. Acylcarnitine profile shows elevated C8, C10, and C10:1. What is the most likely diagnosis?

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