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MS
MTTP AR unreviewed

Abetalipoproteinaemia

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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