Signs and symptoms of abetalipoproteinemiaAcanthocytosis include abetalipoproteinemiaFamilialMTTPAutosomal recessive disorderLipoproteinLipid profileRetinitisMutationsCholesterolDisorderSymptomsDisordersClinicalPatientsHealthFamilialAcanthocytosisLipidHypobetalipoproteinemiaMicrosomal triglycDeficiencyLipoproteinsGeneticsSyndromeNutritionalPeopleMultiple
Signs and symptoms of abetalipoproteinemia4
- The signs and symptoms of abetalipoproteinemia appear in the first few months of life (because pancreatic lipase is not active in this period). (wikipedia.org)
- Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which typically results in eye problems with degeneration of the spinocerebellar and dorsal column tracts. (wikipedia.org)
- The first signs and symptoms of abetalipoproteinemia appear in infancy. (medlineplus.gov)
- What are the signs and symptoms of abetalipoproteinemia? (rareguru.com)
Acanthocytosis include abetalipoproteinemia1
- Other conditions associated with acanthocytosis include abetalipoproteinemia, McLeod phenotype, and treatment with the lung cancer drug alectinib. (medscape.com)
Familial1
- Therefore, it is apparent that diseases linked to VE deficiency will only occur in association with infrequent syndromes of impairment of VE intake and its maintenance, such as abetalipoproteinaemia or the familial isolated VE deficiency syndrome. (nature.com)
MTTP3
- Abetalipoproteinemia is caused by mutations in the MTTP gene, which provides instructions for making a protein called microsomal triglyceride transfer protein. (medlineplus.gov)
- 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)
Autosomal recessive disorder2
- Abetalipoproteinemia is a rare, autosomal recessive disorder in which the body is unable to absorb fats and fat-soluble vitamins from the diet. (osmosis.org)
- All of the syndromes under the NA umbrella are distinguished from the Bassen-Kornzweig syndrome, an autosomal recessive disorder of childhood in which abetalipoproteinemia and acanthocytosis occur along with steatorrhea, retinitis pigmentosa, and cerebellar ataxia. (medscape.com)
Lipoprotein1
- We considered 3 possible causes of an abetalipoproteinemia-like lipid profile in AN: (1) depletion of hepatic substrate for apolipoprotein B synthesis, (2) lack of exogenous fatty acids with exhaustion of endogenous stores of triglycerides in adipose tissue, and (3) preservation of the lipoprotein lipase (LPL) mass. (elsevierpure.com)
Lipid profile1
- We report the case of a 17-year-old woman with anorexia nervosa (AN) who developed an abetalipoproteinemia-like lipid profile and acanthocytosis. (elsevierpure.com)
Retinitis1
- In individuals with abetalipoproteinemia, the retinitis pigmentosa can result in complete vision loss. (medlineplus.gov)
Mutations1
- Mutations in MTP can cause abetalipoproteinemia. (utsouthwestern.edu)
Cholesterol3
- Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. (rareguru.com)
- In abetalipoproteinemia, plasma cholesterol levels are very low, less than 50 mg/dL. (medscape.com)
- In abetalipoproteinemia (Bassen-Kornzweig syndrome), virtually no LDL cholesterol is present, and the body cannot make chylomicrons and very-low-density lipoproteins (VLDL). (msdmanuals.com)
Disorder4
- Abetalipoproteinemia (also known as: Bassen-Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. (wikipedia.org)
- Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. (medlineplus.gov)
- Abetalipoproteinemia is a rare disorder. (medlineplus.gov)
- 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)
Symptoms1
- These symptoms usually appear en masse. (wikipedia.org)
Disorders2
- A few rare hereditary disorders, such as abetalipoproteinemia and hypoalphalipoproteinemia, result in lipid levels low enough to have serious consequences. (msdmanuals.com)
- Autosomal-recessive disorders, abetalipoproteinemia/aprebetalipoproteinemia (chromosome 2), chorea-acanthocytosis syndrome (band 9q21), and the X-linked McLeod phenotype are among the conditions linked with neuroacanthocytosis. (medscape.com)
Clinical1
- The diagnosis of Abetalipoproteinemia involves clinical findings and serum lipid analysis. (osmosis.org)
Patients1
- Connect with other caregivers and patients with Abetalipoproteinemia and get the support you need. (rareguru.com)
Health1
- These nutritional deficiencies lead to health problems in people with abetalipoproteinemia. (medlineplus.gov)
Familial2
- Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are relatively uncommon inherited disorders of lipoprotein metabolism that cause low cholesterol levels. (medscape.com)
- 70 mg/dl includes patients with diagnoses such as familial hypercholesterolemia, PCSK9, apo3500, familial combined hyperlipidemia, sitosterolemia, dysbetalipoproteinemia, abetalipoproteinemia and hypobetalipoproteinemia. (nih.gov)
Acanthocytosis1
- Other conditions associated with acanthocytosis include abetalipoproteinemia, McLeod phenotype, and treatment with the lung cancer drug alectinib. (medscape.com)
Lipid3
- The diagnosis of Abetalipoproteinemia involves clinical findings and serum lipid analysis. (osmosis.org)
- 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)
- A few rare hereditary disorders, such as abetalipoproteinemia and hypoalphalipoproteinemia, result in lipid levels low enough to have serious consequences. (msdmanuals.com)
Hypobetalipoproteinemia1
- abnormalities that impede this process result in abetalipoproteinemia (ABL) and hypobetalipoproteinemia. (medscape.com)
Microsomal triglyc1
- Abetalipoproteinemia (also known as: Bassen-Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. (wikipedia.org)
Deficiency1
- Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which typically results in eye problems with degeneration of the spinocerebellar and dorsal column tracts. (wikipedia.org)
Lipoproteins1
- In abetalipoproteinemia (Bassen-Kornzweig syndrome), virtually no LDL cholesterol is present, and the body cannot make chylomicrons and very-low-density lipoproteins (VLDL). (msdmanuals.com)
Genetics1
- title = Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. (librepathology.org)
Syndrome1
- This book covers the complete field of the pathology of the Gastrointestinal tract - from Abetalipoproteinemia to Zollinger-Ellison Syndrome. (credoreference.com)
Nutritional1
- These nutritional deficiencies lead to health problems in people with abetalipoproteinemia. (medlineplus.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). (medlineplus.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)
Multiple1
- Abetalipoproteinemia effects multiple physiological systems, the two most common being the nervous and the skeletal. (wikipedia.org)