Understanding Lipid Transfer Protein Syndrome: A Comprehensive Guide
Lipid transfer protein syndrome, an autosomal recessive disorder, arises from lipid transfer protein deficiency. It disrupts lipid metabolism and transport, leading to acanthocytosis, anemia, hepatosplenomegaly, and neurologic symptoms. The disrupted lipid metabolism and transport affect cholesterol levels, impairing neurologic function and causing symptoms like seizures, developmental delay, and vision problems. Management focuses on supportive care,…