Abetalipoproteinemia is a disorder that interferes with the normal absorption of fat and Abetalipoproteinemia. Synonyms, Bassen-Kornzweig syndrome. Bassen-Kornzweig disease; Homozygous familial hypobetalipoproteinemia. Prevalence: <1 / 1 ; Inheritance: Autosomal recessive; Age of onset: Infancy. BASSEN FA, KORNZWEIG AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood. Apr;5(4)– [PubMed]; DRUEZ G .
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The disorder is sometimes classified as a neuroacanthocytosis syndrome, which refers to a group of disorders characterized by spiky or syhdrome red blood cells acanthocytosis and neurological disorders, especially movement disorders.
Sign in to access your subscriptions Sign in to your personal account. InBassen and Kornzweig 1 defined a new syndrome when they reported the presence of unusual, thorny-appearing erythrocytes in an year-old girl who had a neuromuscular disorder resembling Friedreich’s ataxia and retinitis pigmentosa.
Standard Therapies Treatment The treatment of abetalipoproteinemia is directed toward the specific symptoms that are apparent in each individual. Genetic counseling can help families understand the condition and the risks of inheriting it, and learn how to care for the person.
This page was last edited on 28 Novemberat Supplements of medium-chain triglycerides are taken under the supervision of a health care provider. They should be used with caution, because they may cause liver damage.
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of Bassen-lornzweig function. Complete blood count A complete blood count CBC test measures the following: Such symptoms include pale, bulky foul-smelling stools steatorrheadiarrhea, vomiting, and swelling distension of bazsen-kornzweig abdomen. Any duplication or distribution of the information contained herein is strictly prohibited. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions.
Diet changes are needed to prevent stomach problems.
Rare Disease Database
They can include failure to gain weight and grow at the expected rate failure to thrive ; diarrhea; abnormal spiny red blood cells acanthocytosis ; and fatty, foul-smelling stools steatorrhea. Gene therapy for dyslipidemia: Acanthrocytosis; a genetic erythrocytic malformation. Handbook of bassen-kornzwrig neurology.
The person is unable to fully absorb dietary fats through the intestines.
Parents who are close relatives have a higher chance than unrelated parents of both carrying the same altered gene. Apolipoprotein B apoB is a protein that plays a role in moving cholesterol around your body. It is an autosomal recessive condition that more often affects males. In rare cases, bassen-ornzweig or scarring of the liver cirrhosis has also been reported.
Resources Please note that some of these organizations may provide information concerning certain conditions syndroem associated with this disorder. Retinitis pigmentosa Retinitis pigmentosa is an eye disease wyndrome which there is baszen-kornzweig to the retina. Diets in infants may be supplemented with medium chain fatty acids, which can be transported in the blood without apoB-containing lipoproteins, in order to promote normal growth and development.
These lipid and protein complexes act as transporters that carry fats and fat soluble vitamins e. Symptom onset may occur during childhood or adulthood.
This protein is required for the proper assembly and secretion of apoB-containing lipoproteins in the liver and intestines. Posterior pole of patient with abetalipoproteinemia showing pale optic nerve head, attenuated blood vessels and atrophic retina left. Treatment of individuals with FHBL is similar to treatment for individuals with abetalipoproteinemia.
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia. Sndrome associated symptoms can vary greatly from one person to another, but can include weakness of the muscles of the arms and legs or abnormal sensations such as tingling paresthesiasburning or numbness.
Sign in to make a comment Sign in to your baxsen-kornzweig account. General Discussion Summary Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. Lecithin cholesterol acyltransferase deficiency Tangier disease.
Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency. The retina is the layer of tissue at the back of the inner eye.