Mina Gulfem Temizturk

EP1842 - LBA_ECE_1005 - Homozygous familial hypobetalipoproteinemia with abetalipoproteinemia-like phenotype: a rare multisystemic substrate crisis with negative MTTP sequencing

This case underscores the challenges in drug access when canonical markers are absent and involves a strict Low-LCT diet supplemented with Medium-Chain Triglyceride (MCT) oil, which remains the gold standard for stabilizing this phenotype.