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AbetalipoproteinemiaAcanthocytesApolipoproteins BHypobetalipoproteinemiasHypolipoproteinemiasApolipoproteinsCarrier ProteinsLipoproteins, HDLLipoproteins, VLDLLipoproteinsLipoproteins, LDLTriglycerides

Microsomal triglycMutationsGenetic Testing RegistryGeneClinicalAbsorption of fatsPatientsConditionHealthDiseaseGeneDisordersMutationNutritionalVariantsInherited disorderLiverIndividualsPeopleRare

Microsomal triglyc4

• The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein. (medlineplus.gov)
• Most MTTP gene mutations lead to the production of microsomal triglyceride transfer protein with reduced or absent function, preventing the formation of beta-lipoproteins. (medlineplus.gov)
• Walsh MT, Di Leo E, Okur I, Tarugi P, Hussain MM. Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects. (medlineplus.gov)
• Results: We identified a rare causal variant c.1691T>C p.I564T (rs745447480) in MTTP, encoding microsomal triglyceride transfer protein (MTP), associated with progressive NAFLD, unrelated to metabolic syndrome and without characteristic features of abetalipoproteinaemia. (bvsalud.org)

Mutations7

• More than 60 mutations in the MTTP gene have been found to cause abetalipoproteinemia. (medlineplus.gov)
• All MTTP gene mutations that cause abetalipoproteinemia impair beta-lipoprotein formation and result in a severe shortage of chylomicrons, LDLs, and VLDLs. (medlineplus.gov)
• Mutations in MT-TP have been associated with Abetalipoproteinemia. (wikipedia.org)
• Most of the symptoms are due to defects in the absorption and transport of vitamin E . Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner. (rareguru.com)
• Abetalipoproteinemia is caused by changes ( mutations ) in the MTTP gene. (rareguru.com)
• Mutations in the MTTP result in a lack of beta-lipoproteins, leading to an inability to absorb and transport these substances. (rareguru.com)
• Mutations in MTP can cause abetalipoproteinemia. (utsouthwestern.edu)

Genetic Testing Registry1

• The Genetic Testing Registry (GTR) provides information about the genetic tests available for abetalipoproteinemia. (rareguru.com)

Gene2

• Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T. Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. (medlineplus.gov)
• The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. (rareguru.com)

Clinical1

• Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients. (cdc.gov)

Absorption of fats2

• Abetalipoproteinemia is an inherited disorder characterized by an impaired absorption of fats and certain vitamins from the diet. (wikipedia.org)
• Abetalipoproteinemia is a congenital lipid disorder in which a deficiency of apolipoproteins (hypolipoproteinemia) leads to impaired intestinal absorption of fats and fat-soluble vitamins . (amboss.com)

Patients1

• Connect with other caregivers and patients with Abetalipoproteinemia and get the support you need. (rareguru.com)

Condition1

• Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. (rareguru.com)

Health1

• These nutritional deficiencies lead to health problems in people with abetalipoproteinemia. (medlineplus.gov)

Disease1

• MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study. (cdc.gov)

Gene4

• The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein. (medlineplus.gov)
• Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM, Ben-Yosef T. Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. (medlineplus.gov)
• The molecular genetic cause of the disease are pathogenic variants in the gene encoding Microsomal Triglyceride Transfer Protein (MTTP). (medicover-genetics.com)
• A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases. (nih.gov)

Disorders1

• The Abetalipoproteinemia and Related Disorders Foundation was established in 2019 to provide guidance and support for the life-long management of inherited hypocholesterolemia disorders. (bvsalud.org)

Mutation1

• Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients. (cdc.gov)

Nutritional1

• These nutritional deficiencies lead to health problems in people with abetalipoproteinemia. (medlineplus.gov)

Variants1

• Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families. (cdc.gov)

Inherited disorder3

• Abetalipoproteinemia is an inherited disorder characterized by an impaired absorption of fats and certain vitamins from the diet. (wikipedia.org)
• Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. (nih.gov)
• Abetalipoproteinemia (also known as Bassen-Kornzweig syndrome) is a rare autosomal recessive inherited disorder affecting the lipid metabolism that is characterized by severely decreased levels of apolipoprotein B. Growth retardation can already occur from infancy due to a malabsorption syndrome. (medicover-genetics.com)

Liver3

• MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study. (cdc.gov)
• MTTP is a multifunctional heterodimeric protein involved in the assembly and secretion of Apo B-containing lipoproteins (mainly LDL and VLDL) in the liver. (medicover-genetics.com)
• Loss of function of MTTP leads to increased degradation of Apo B in the liver. (medicover-genetics.com)

Individuals1

• In individuals with abetalipoproteinemia, the retinitis pigmentosa can result in complete vision loss. (nih.gov)

People3

• People with abetalipoproteinemia may also have other eye problems, including involuntary eye movements (nystagmus), eyes that do not look in the same direction (strabismus), and weakness of the external muscles of the eye (ophthalmoplegia). (nih.gov)
• This graph shows the total number of publications written about "Abetalipoproteinemia" by people in this website by year, and whether "Abetalipoproteinemia" was a major or minor topic of these publications. (musc.edu)
• Below are the most recent publications written about "Abetalipoproteinemia" by people in Profiles. (musc.edu)

Rare1

• Abetalipoproteinemia is a rare disorder. (nih.gov)