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Topic: Abetalipoproteinemia

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	Abetalipoproteinemia - Genetics Home Reference (Site not responding. Last check: 2007-11-03)
		Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain vitamins.
		A lack of beta-lipoproteins prevents absorption through the digestive tract of dietary fats and fat-soluble vitamins such as vitamins E, A, and sometimes K. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues, particularly nerve cells and tissues in the eye.
		Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide.
	ghr.nlm.nih.gov /condition=abetalipoproteinemia (684 words)

	eMedicine - Acanthocytosis : Article by Frank E Shafer, MD (Site not responding. Last check: 2007-11-03)
		Abetalipoproteinemia is a rare inborn error of lipid metabolism due to an inability to synthesize and assemble the lipid transport protein, apolipoprotein B (apo B).
		Abetalipoproteinemia is an autosomal recessive disease; patients present in the first month of life with fat malabsorption with normal absorption of other nutrients.
		In abetalipoproteinemia, the hematologic manifestations are relatively mild.
	www.emedicine.com /ped/topic2.htm (4868 words)

	Abetalipoproteinemia (Site not responding. Last check: 2007-11-03)
		It is possible that the main title of the report Abetalipoproteinemia is not the name you expected.
		Abetalipoproteinemia is a rare inherited disorder of fat metabolism.
		Abetalipoproteinemia is inherited as an autosomal recessive trait.
	www.luhs.org /health/kbase/htm/nord/1154/nord1154.htm (385 words)

	Medical Dictionary: Abetalipoproteinemia - WrongDiagnosis.com - WrongDiagnosis.com
		Abetalipoproteinemia: A disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of APOLIPOPROTEINS B and apoB-containing lipoproteins in plasma.
		Abetalipoproteinemia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Abetalipoproteinemia, or a subtype of Abetalipoproteinemia, affects less than 200,000 people in the US population.
	www.wrongdiagnosis.com /medical/abetalipoproteinemia_printer.htm (237 words)

	NEUROACANTHOCYTOSIS DISORDERS: Contact a Family - for families with disabled children: information on rare ...
		Abetalipoproteinemia was first described by Dr F A Bassen and Dr A L Kornzweig in 1950.
		Abetalipoproteinemia is caused by mutations in the APOB (Apolipoprotein B) gene and the MTP (microsomal triglyceride transfer protein) gene.
		Treatment of Abetalipoproteinemia should be under an expert dietician and is designed to boost vitamin intake of fat-soluble vitamins such as A, B, E or K and avoiding over consumption of foods containing triglycerides (fat compounds contained in lipoproteins).
	www.cafamily.org.uk /Direct/n238.html (1702 words)

	Clinical Trial: Vitamin Replacement in Abetalipoproteinemia
		Abetalipoproteinemia is an inherited metabolic defect that prevents fat-soluble vitamins, such as A and E, from being absorbed from the intestines into the bloodstream and from being secreted by the liver.
		In a rare lipid metabolic disorder called abetalipoproteinemia, a defect in the assembly of the fat and vitamin containing particles prevents the formation of chylomicrons resulting in the malabsorption of fat and fat-soluble vitamins.
		In vivo metabolism of apolipoproteins A-I and E in patients with abetalipoproteinemia: implications for the roles of apolipoproteins B and E in HDL metabolism.
	clinicaltrials.gov /show/NCT00004574 (488 words)

	Knockout of the abetalipoproteinemia gene in mice: Reduced lipoprotein secretion in heterozygotes and embryonic ...
		Abetalipoproteinemia, an inherited human disease characterized by a near-complete absence of the apolipoprotein (apo) B-containing
		Abetalipoproteinemia is an inherited human disease characterized by extremely low plasma levels of cholesterol and triglycerides
		Abetalipoproteinemia is caused by mutations in the gene for the
	www.pnas.org /cgi/content/full/95/15/8686 (4851 words)

	Ophthaproblem. Which vitamins should this patient be given as therapy for her disorder?
		The condition is treated with supplements of the two fat-soluble vitamins A and E. Abetalipoproteinemia manifests itself through signs of lipid malabsorption, dense contracted red blood cells with multiple thorny projections, degeneration of the pigment of the retina, and ataxia with hypocholesteremia.
		Abetalipoproteinemia is a rare autosomal recessive disorder caused by an abnormality in a microsomal triglyceride transfer protein normally present in the liver and intestines.
		The role of the microsomal triglyceride transfer protein in abetalipoproteinemia.
	www.cfpc.ca /cfp/2005/Aug/vol51-aug-clinical-2_fr.asp (1258 words)

	eMedicine - Low LDL Cholesterol (Hypobetalipoproteinemia) : Article by Vibhuti N Singh
		Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are relatively uncommon inherited disorders of lipoprotein metabolism that cause low cholesterol levels.
		Abetalipoproteinemia: Infants exhibit failure to thrive, fat malabsorption, and abdominal distention during the first month of life.
		Gregg RE, Wetterau JR. The molecular basis of abetalipoproteinemia. Curr Opin Lipidol. 1994;5(2):81-6. [Medline].
	www.emedicine.com /MED/topic1117.htm (4377 words)

	Abetalipoproteinemia Cause, Symptoms, Treatment and Cure
		Abetalipoproteinemia (ABL) is a rare inherited disorder characterized by difficulty in absorbing fat during digestion.
		Treatment for abetalipoproteinemia attempts to slow down the effects of inadequate fat absorption.
		Deficiency is rare, and often tied to diseases that impair the body's ability to absorb fat, such as cystic fibrosis, chronic cholestatic liver disease, short-bowel syndrome, and the rare, inherited disorder called abetalipoproteinemia.
	www.online-vitamins-guide.com /deficiency/abetalipoproteinemia.htm (282 words)

	Bassen-Kornzweig Syndrome Information on Healthline
		MTP is a gene that encodes a protein responsible for transporting triglycerides, cholesteryl esters, and components of the cell's surface called phospholipids.
		Biochemical studies revealed that in biopsies from patients that lack lipoproteins (abetalipoproteinemia) and controls, MTP enzyme activity was only detected in control samples.
		MTP is expressed in the lumen of the liver and intestine and is not only important for transport of lipoproteins, but also for their assembly.
	www.healthline.com /galecontent/bassen-kornzweig-syndrome (690 words)

	Biennial and Annual Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2004 - ... (Site not responding. Last check: 2007-11-03)
		Abetalipoproteinemia is a recessive disorder of lipid metabolism characterized by the absence of apoprotein B-containing lipoproteins from the plasma.
		Researchers in the NHLBI intramural program are studying patients with abetalipoproteinemia to document the natural history of the disorder and to look for more effective treatments.
		They also are conducting metabolic studies in patients with abetalipoproteinemia to clarify the role of MTP in triglyceride (fat) and fat soluble vitamin absorption.
	ord.aspensys.com /html/reports/Fy2004/nhlbi.html (17565 words)

	Abetalipoproteinemia Caused by Maternal Isodisomy of Chromosome 4q Containing an Intron 9 Splice Acceptor Mutation in ...
		Abetalipoproteinemia (new insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease).
		A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and cause abetalipoproteinemia.
		A novel abetalipoproteinemia genotype: identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
	atvb.ahajournals.org /cgi/content/full/19/8/1950 (3280 words)

	Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation -- Granot ...
		HDL particles in abetalipoproteinemia patients are richer in
		Mutations of the microsomal triacylglycerol transfer-protein gene in abetalipoproteinemia.
		Lipoproteins containing apolipoprotein B isolated from patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia: identification and characterization.
	www.ajcn.org /cgi/content/full/79/2/226 (2787 words)

	Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia -- Wetterau et al. 258 ...
		Abetalipoproteinemia is a human genetic disease that is characterized by a defect in the assembly or secretion of plasma very low density lipoproteins and chylomicrons.
		This finding suggests that a defect in MTP is the basis for abetalipoproteinemia and that MTP is indeed required for lipoprotein assembly.
		Knockout of the abetalipoproteinemia gene in mice: Reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.
	www.sciencemag.org /cgi/content/abstract/258/5084/999 (2925 words)

	Abetalipoproteinemia Caused by Maternal Isodisomy of Chromosome 4q Containing an Intron 9 Splice Acceptor Mutation in ...
		Abetalipoproteinemia Caused by Maternal Isodisomy of Chromosome 4q Containing an Intron 9 Splice Acceptor Mutation in the Microsomal Triglyceride Transfer Protein Gene -- Yang et al.
		Abetalipoproteinemia Caused by Maternal Isodisomy of Chromosome 4q Containing an Intron 9 Splice Acceptor Mutation in the Microsomal Triglyceride Transfer Protein Gene
		Abetalipoproteinemia (ABL) is a rare autosomal recessive deficiency
	atvb.ahajournals.org /cgi/content/abstract/19/8/1950 (409 words)

	Abetalipoproteinemia (Bassen Kornzweig Syndrome) - New Treatments, January 2, 2007
		Abetalipoproteinemia (Bassen Kornzweig Syndrome) - New Treatments, January 2, 2007
		Abetalipoproteinemia (Bassen Kornzweig Syndrome) is another interesting disease that can cause ataxia - and this again is kind of related to vitamin deficiencies - it’s called Bassen-Kornzweig syndrome.
		But in this condition it’s not dysmetria that would be striking.
	www.ccspublishing.com /journals5a/bassen_kornzweig_syndrome.htm (679 words)

	Abetalipoproteinemia Treatment and Symptoms
		Abetalipoproteinemia (also known as Bassen-Kornzweig syndrome) is an inherited disorder that affects how fats are made and used in the body.
		Fats attach to special proteins called lipoproteins to travel to wherever they're needed.
		Abetalipoproteinemia is a rare genetic disorder that interferes with the no...
	goldbamboo.com /topic-t4100.html (173 words)

	Abetalipoproteinemia - Abetalipoproteinemia Information
		Abetalipoproteinemia can be defined as the rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels.
		Individuals with abetalipoproteinemia may be prescribed special vitamin E supplements by a physician to treat this disorder.
		Here are the list of some of the Abetalipoproteinemia Symptoms:
	www.free-food-recipes.com /abetalipoproteinemia.htm (81 words)

	Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia -- Ohashi et al. 41 ...
		Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia -- Ohashi et al.
		Yang, X. P., Inazu, A., Yagi, K., Kajinami, K., Koizumi, J., Mabuchi, H. Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene.
		Wang, J., Hegele, R. Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
	www.jlr.org /cgi/content/full/41/8/1199 (3494 words)

	Retinopathy
		Use of large amounts of vitamin E in the prevention of retrolental fibroplasia requires the supervision of a pediatrician.
		Vitamin E has also been found to prevent retinopathy in people with a rare genetic disease known as abetalipoproteinemia.
		People with this disorder lack a protein that transports fat-soluble nutrients, and can therefore develop deficiencies of vitamin E and other nutrients.
	www.gianteagle.com /healthnotes/Concern/Retinopathy.htm (1531 words)

	Abetalipoproteinemia-Facts needed Discussion at Pediaindia.net
		May be too presumptuous, however a diarrhea of a recurrent nature, mostly suggestive of FAT MALABSORPTION with a clinical picture of nervous system involvement in form of lost DTR's may be abetalipoproteinemia.
		HOWEVER most abetalipoproteinemia present more with ATAXIA rather than weakness.
		Hence would be a need of thorough examination esp. CNS.
	pediaindia.net /disc2k1/res020204.shtml (136 words)

	Web Resources Directory - Abetalipoproteinemia
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		A definition of abetalipoproteinemia, followed by epidemiology, pathogenesis, clinical features, investigations and management.
	www.medications.com /go/dir/526699 (69 words)

	Blood/lymphatic system - Genetics Home Reference
		Lipoprotein Deficiency Disease, HDL, Familial see Tangier disease
		Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
		Non-Neuronopathic Gaucher Disease see Gaucher disease, type 1
	ghr.nlm.nih.gov /ghr/conditionsByCategory/show/bloodlymphaticsystem (279 words)

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