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
Europe PMC · fetched just now · sorted by publication date
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1
Letter to the Editor: 'Rare but relevant: Genetic liver disease in the general medical setting'.
McCarron EP. · 2026-03-07
open access unreviewed - 2
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3
Efficacy and Safety of Statins in MASLD and Other Chronic Liver Diseases.
Commins I, Clayton-Chubb D, Janko N, Majeed A, Kemp W, Roberts SK. · 2026-02-11
open access unreviewed -
4
Standardising lipid testing and reporting in the United Kingdom; a joint statement by HEART UK and The Association for Laboratory Medicine.
Kenkre JS, Mazaheri T, Neely RDG, Soran H, Datta D, Penson P, Downie P, Yates AM, Hayden K, Patel M, Cegla J. · 2025-01-31
cited 5× open access unreviewed -
5
Rare Movement Disorders-An Approach for Clinicians.
Jesuthasan A, Magrinelli F, Batla A, Bhatia KP. · 2025-06-23
open access unreviewed -
6
MetALD: New Perspectives on an Old Overlooked Disease.
Ayares G, Diaz LA, Idalsoaga F, Alkhouri N, Noureddin M, Bataller R, Loomba R, Arab JP, Arrese M. · 2025-05-01
cited 20× open access unreviewed -
7
Retrospective audit reviewing accuracy of clinical diagnosis of geographic atrophy in a single centre private tertiary retinal practice in Australia.
Markakis D, Britten-Jones AC, Guymer RH, Edwards TL, Hall AJ, Kerr NM, Ng W, Skalicky S, Ayton LN, Mack HG. · 2025-03-12
cited 1× open access unreviewed -
8
Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials.
D'Silva A, Barnes J, Djafar J, Bhattacharya K, Yan J, Mohammad S, Bandodkar S, Johnson A, Tchan M, Miteff C, … · 2025-02-12
open access unreviewed -
9
Impact of LDL-C levels on severity and outcome of intracranial haemorrhage: a single-centre retrospective study.
Lee KP, Hsu LC. · 2025-06-01
cited 1× open access unreviewed -
10
Vitamin E for people with non-alcoholic fatty liver disease.
Wen H, Deng H, Yang L, Li L, Lin J, Zheng P, Bjelakovic M, Ji G. · 2024-10-16
cited 10× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.