MTTP AR unreviewed
Abetalipoproteinaemia
Lipoprotein assembly
Microsomal triglyceride transfer protein
Enzyme or protein defect
Microsomal triglyceride transfer protein
Accumulates or becomes deficient
Intracellular TAG in enterocytes
Key features
Fat malabsorption, acanthocytosis, retinitis pigmentosa, ataxia, fat-soluble vitamin deficiency
Management
High-dose vitamin E and A; low-fat diet
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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