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Abetalipoproteinemia (Bassen Kornzweig Syndrome)

An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.
Also Known As:
Bassen Kornzweig Syndrome; Acanthocytosis; Bassen-Kornzweig Disease; Betalipoprotein Deficiency Disease; Microsomal Triglyceride Transfer Protein Deficiency Disease; Acanthocytoses; Bassen Kornzweig Disease; Betalipoprotein Deficiency Diseases; Deficiency Disease, Betalipoprotein; Deficiency Diseases, Betalipoprotein; Disease, Betalipoprotein Deficiency; Diseases, Betalipoprotein Deficiency; Bassen-Kornzweig Syndrome; Microsomal Triglyceride Transfer Protein Deficiency
Networked: 375 relevant articles (4 outcomes, 29 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Chylomicron retention disease
2. Liver Diseases (Liver Disease)
3. Hypobetalipoproteinemias (Hypobetalipoproteinemia)
4. Dyslipidemias (Dyslipidemia)
5. Inborn Genetic Diseases (Disease, Hereditary)

Experts

1. Tarugi, Patrizia: 12 articles (07/2019 - 01/2004)
2. Hegele, Robert A: 9 articles (03/2022 - 08/2010)
3. Di Leo, Enza: 9 articles (07/2019 - 01/2004)
4. Hussain, M Mahmood: 8 articles (01/2019 - 06/2006)
5. Iqbal, Jahangir: 6 articles (01/2020 - 05/2003)
6. Sassolas, Agnès: 6 articles (01/2018 - 08/2009)
7. Davidson, Nicholas O: 5 articles (10/2019 - 02/2006)
8. Danek, Adrian: 4 articles (02/2022 - 10/2008)
9. Lachaux, Alain: 4 articles (01/2021 - 08/2009)
10. Peretti, Noël: 4 articles (01/2021 - 07/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Abetalipoproteinemia:
1. Vitamin EFDA LinkGeneric
2. VitaminsIBA
3. Tocopherols (Tocopherol)IBA
4. alpha-TocopherolFDA Link
5. Lipoproteins (Lipoprotein)IBA
6. Apolipoproteins B (ApoB)IBA
7. ApolipoproteinsIBA
8. oxidized low density lipoproteinIBA
9. ChylomicronsIBA
10. VLDL LipoproteinsIBA

Therapies and Procedures

1. Therapeutics
2. Microspheres (Microsphere)
3. Liver Transplantation
4. Deep Brain Stimulation
5. Splenectomy