🧬 X-ALD = VLCFA Overload!

• Cause: ABCD1 mut → ↑ VLCFA

• Triad:

• Neurodegen (demyelination)

• Adrenal insuff (Addison’s)

• ↑ VLCFA (plasma assay)

• Tx:

• HSCT (early cerebral)

• Gene therapy (Skysona™) — emerging

• Lifelong steroids: glucocorticoids ± mineralocorticoids

• Lorenzo’s oil — controversial/adjunct

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