📘 Abetalipoproteinemia · Bassen-Kornzweig Syndrome

Nelson Textbook of Pediatrics 22nd Ed — Section 106.3. MTTP mutations → absent apoB-containing lipoproteins (chylomicrons, VLDL, LDL). Fat-soluble vitamin deficiencies (A, D, E, K). Acanthocytosis, spinocerebellar ataxia, retinitis pigmentosa, coagulopathy. Treatment: high-dose vitamin E, vitamins A, D, K, MCT oil.