What is deficient abetalipoproteinemia?
What is deficient abetalipoproteinemia?
Description. Collapse Section. Abetalipoproteinemia is an inherited disorder that impairs the normal absorption of fats and certain vitamins from the diet. Many of the signs and symptoms of abetalipoproteinemia result from a severe shortage (deficiency) of fat-soluble vitamins (vitamins A, E, and K).
What is the symptoms of abetalipoproteinemia?
Such symptoms include pale, bulky foul-smelling stools (steatorrhea), diarrhea, vomiting, and swelling (distension) of the abdomen. Affected infants often fail to gain weight and grow at the expected rate (failure to thrive). These symptoms result from poor absorption of fat from the diet.
What is the genetic defect that cause the abetalipoproteinemia?
Disease at a Glance Abetalipoproteinemia is diagnosed based on clinical exam, laboratory tests showing abnormally low cholesterol, and confirmed by genetic testing. This condition is caused by genetic variants in the MTTP gene and is inherited in an autosomal recessive pattern.
What is Bassen-Kornzweig syndrome?
Bassen-Kornzweig syndrome is caused by a defect in the MTTP gene that tells the body to create lipoproteins (molecules of fat combined with protein). The defect makes it hard for the body to properly digest fat and essential vitamins.
When is abetalipoproteinemia diagnosed?
The diagnosis of abetalipoproteinemia is established in a proband with absent or extremely low LDL-cholesterol, triglyceride, and apolipoprotein (apo) B levels and biallelic pathogenic variants in MTTP identified by molecular genetic testing.
What abnormality would you expect to see to the RBC of a patient with abetalipoproteinemia?
Individuals with abetalipoproteinemia usually have a low number of red blood cells ( anemia) with abnormally star-shaped red blood cells (acanthocytosis) and have difficulty forming blood clots, which can cause abnormal bleeding. In some cases, a condition called fatty liver develops, which can cause liver damage.
Is ataxia present in abetalipoproteinemia?
Abetalipoproteinemia is a rare, autosomal recessive disorder characterized by onset of diarrhea soon after birth and slow development of a neurological syndrome thereafter. The neurological syndrome consists of ataxia, weakness of the limbs with loss of tendon reflexes, disturbed sensation, and retinal degeneration.
What is Tangier’s disease?
Tangier disease is most often characterized by enlarged orange- or yellow-colored tonsils. This discoloration is due to fatty deposits accumulating in the tonsils. Fatty deposits can also form in other organs causing enlargement of the throat, liver, spleen, or lymph nodes.
Can vitamin E help with ataxia?
Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia.
Is ataxia present in Abetalipoproteinemia?
What is Chorea-Acanthocytosis?
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis).
How do you test for Tangier’s disease?
Diagnosis of Tangier disease is achieved through clinical evaluation and can be confirmed through genetic testing involving the sequencing of the ABCA1 gene. HDL-C deficiency and an extremely low apolipoprotein A1 (ApoA1) level are typical diagnostic criteria.
What happens when HDL cholesterol decreases?
This study found that lower HDL cholesterol levels were associated with a higher risk of death from cardiovascular causes, as prior studies have shown. However, there was also a higher risk of death from cancer and other causes compared with those having average levels of HDL cholesterol.
What is the MTTP gene used for?
Collapse Section The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein. This protein helps produce beta-lipoproteins, which are molecules that are made up of proteins (including one called apolipoprotein B), cholesterol, and particular types of fats called phospholipids and triglycerides.
What is mitochondrial trifunctional protein deficiency (MTPD)?
Mitochondrial trifunctional protein deficiency ( MTP deficiency or MTPD) is an autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats to energy, particularly during periods without food.
What does MTTP stand for?
Microsomal TG transfer protein (MTTP) is required for the assembly and secretion of TG (TG)-rich lipoproteins from both enterocytes and hepatocytes.
What is microsomal TG transfer protein (MTTP)?
1 Division of Gastroenterology, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA. Microsomal TG transfer protein (MTTP) is required for the assembly and secretion of TG (TG)-rich lipoproteins from both enterocytes and hepatocytes.