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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Apolipoprotein B Apolipoprotein B apoB is a protein that plays a role in moving cholesterol around your body.
The defect makes it hard for the body to properly digest fat and essential vitamins. Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited as an autosomal recessive genetic condition.
Multiple functions of microsomal triglyceride transfer protein. Microsomal triglyceride transfer protein and abetalipoproteinemia. Ocular clinicopathologic correlation of Hallervoden-Spatz syndrome with acanthocytosis and pigmentary retinopathy. Some current clinical trials also are posted on the following page on the NORD website: Eye exam A standard ophthalmic exam is a series of tests done to check your vision and the health of your eyes.
Lipoproteins are macromolecular complexes consisting of lipids and proteins. Call your provider if your infant or child has symptoms of this disease.
Vitamin D Vitamin D is a fat-soluble vitamin. Affected individuals may also develop degeneration of the retina of the eyes potentially resulting in loss of vision, a condition known as retinitis pigmentosa. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.
Some individuals may also experience irregularities in heart rhythm cardiac arrhythmias. Recent research has determined that MTP is also involved in the maturation of a family of proteins known as CD1, which are involved in lipid antigen-presentation to immune cells.
The information provided herein should not be used during any medical emergency or for the diagnosis or bassen-kornzweog of any medical condition.
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It is a form of low density lipoprotein LDL. Bassen-Kornzweig syndrome is a rare disease passed down through families.
Abetalipoproteinemia – NORD (National Organization for Rare Disorders)
Links to PubMed are also available for Selected References. Resources Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder. D ICD – This article has been cited by other articles in PMC. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD.
Treatment involves large doses of vitamin supplements containing fat-soluble vitamins vitamin Avitamin Dvitamin Eand vitamin K.
New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease”. Mutations of the MTTP gene lead to low levels of functional MTP, which in turn, hinders the liver and intestines from making and secreting apoB-containing lipoproteins. For information about clinical trials sponsored by private sources, contact: It is an autosomal recessive condition that more often affects males. Syhdrome material may be challenged and removed.
Bassen-Kornzweig syndrome | Multimedia Encyclopedia | Health Information | St. Luke’s Hospital
Defects in the metabolism of lipids. Full text Full text is available as a scanned copy of the original print version. Bassen-Kornzweig syndrome is caused by a defect in a gene that tells the body to create lipoproteins molecules of fat combined with protein.
Alone we are rare. Less often, additional symptoms that affect the eyes have been reported including rapid, involuntary eye movements nystagmusdroopy upper eyelid ptosisbassen-kornzwrig eyes strabismusunequal size of the pupils anisocoriaand weakness or paralysis of muscles that control eye movements ophthalmoplegia. Sign in to make a comment Sign in to your personal account.