Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)

What this deck covers

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) in fourteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the fourteen cases you are asked to choose between options such as: MCAD deficiency, Glycogen storage disease type I (von Gierke), Propionic acidemia, Elevated C8 (octanoylcarnitine), Elevated C14:1 (tetradecenoylcarnitine), Severe hypoketotic hypoglycaemia causing neuronal death, Autoimmune destruction of mitochondria in target organs, Deficiency of acetyl-CoA impairing Krebs cycle function, Plasma acylcarnitine profile showing elevated C16-OH only, Intralipid infusion to provide energy substrate, Entirely preventable with strict dietary management, Coincidental viral hepatitis unrelated to the pregnancy, Autoimmune hepatitis triggered by pregnancy hormones.

Clinical pearls from this deck

• Four findings together point to LCHAD: hypoketotic hypoglycaemia, dilated cardiomyopathy, hepatomegaly, and lactic acidosis from cellular energy failure. It is the combination, not any single feature, that makes the diagnosis.
• The hydroxyl group is the signature. Elevated C16-OH, C18-OH and C18:1-OH distinguish LCHAD from every other fatty acid oxidation disorder — the block sits at the 3-hydroxyacyl step, so hydroxylated species accumulate.

The fourteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.