abetalipoproteinemia
Bassen-Kornzweig syndrome

Abetalipoproteinemia treatment is received for its potential in preventing vitamin E deficiency.

It is also commonly recognized as abetalipoprotein deficiency or abetalipoproteinemia.

People with abetalipoproteinemia, a rare genetic disorder that impairs fat metabolism.

Another form is associated with microsomal triglyceride transfer protein which causes abetalipoproteinemia.

Abetalipoproteinemia affects the absorption of dietary fats, cholesterol, and certain vitamins.

Individuals with abetalipoproteinemia may be prescribed special vitamin E supplements by a physician to treat this disorder.

Abetalipoproteinemia is inherited as an autosomal recessive trait.

Alterations in membrane lipids are seen in abetalipoproteinemia and liver dysfunction.

Interruptions in the delivery of cholesterol include Smith-Lemli-Opitz syndrome and abetalipoproteinemia.

The signs and symptoms of abetalipoproteinemia appear in the first few months of life(because pancreatic lipase is not active in this period).

Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.

Vitamin A deficiency can occur in people with protein deficiency, diabetes, over-active thyroid, fever, liver disease, cystic fibrosis, or an inherited disorder called abetalipoproteinemia.

RP combined with retardation, peripheral neuropathy, acanthotic (spiked) RBCs, ataxia, steatorrhea, is absence of VLDL is seen in abetalipoproteinemia.

An excess of sphingomyelin in the red blood cell membrane (as in abetalipoproteinemia) causes excess lipid accumulation in the outer leaflet of the red blood cell plasma membrane.

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 columns tracts.

Acanthocytosis can refer generally to the presence of this type of crenated red blood cell, such as may be found in severe cirrhosis or pancreatitis, but can refer specifically to abetalipoproteinemia, a clinical condition with acanthocytic red blood cells, neurologic problems and steatorrhea.

They are seen on blood films in, among others abetalipoproteinemia, liver disease, chorea acanthocytosis, McLeod syndrome and several inherited neurological disorders, such as neuroacanthocytosis, anorexia nervosa, infantile pyknocytosis, hypothyroidism, ideopathic neonatal hepatitis, alcoholism, congestive splenomegaly, Zieve syndrome, and chronic granulomatous disease.

Abetalipoproteinemia is a rare inherited disorder of fat metabolism that results in poor absorption of dietary fat and vitamin E. The vitamin E deficiency associated with this disease causes problems such as poor transmission of nerve impulses, muscle weakness, and degeneration of the retina that can cause blindness.

Bassen-Kornzweig syndrome is caused by a defect in a gene that tells the body to create lipoproteins (molecules of fat combined with protein).

Bassen-Kornzweig syndrome is a rare disease passed down through families in which a person is unable to fully absorb dietary fats through the intestines.

"Bassen-Kornzweig Syndrome."

Bassen-Kornzweig syndrome (Abetalipoproteinemia)

He was also widely known as the co-discoverer and namer of Bassen-Kornzweig Syndrome, also called Abetalipoproteinemia.

Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.

Bassen-Kornzweig Syndrome Low-Density Beta Lipoprotein Deficiency None Acanthocytosis is a digestive disorder that is characterized by the absence of very low density lipoproteins (VLDL) and chylomicrons in the plasma.

Bassen-Kornzweig disease, also called Bassen-Kornzweig Syndrome, is a rare congenital disorder in which the body fails to produce chylomicrons, a low density lipoprotein (LDL) and very low density lipoprotein (VLDL).

ABL Bassen-Kornzweig Syndrome Low Density B-lipoprotein Deficiency Microsomal Triglyceride Transfer Protein Deficiency MTP Deficiency None Abetalipoproteinemia is a rare inherited disorder of fat metabolism.