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14-September-2008 10:43:22 - Abetalipoproteinemia July 2008 Abetalipoproteinemia Classification and external resources ICD-10 E78.6 ICD-9 272.5 OMIM 200100 DiseasesDB 17 MedlinePlus 001666 eMedicine med/1117 MeSH D000012 Abetalipoproteinemia, or Bassen-Kornzweig syndrome,1 is a rare autosomal recessive2 disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is not to be confused with dysbetalipoproteinemia. Contents 1 Features 2 Symptoms 3 Diagnosis 4 Genetics 5 Treatment 6 References 7 External links Features Abetalipoproteinemia affects the absorption of dietary fats, cholesterol, and certain vitamins. People affected by this disorder are not able to make certain lipoproteins, which are molecules that consist of proteins combined with cholesterol and particular fats called triglycerides. This leads to a multiple vitamin deficiency, affecting the fat-soluble vitamin A, vitamin D, vitamin E, and vitamin K. However, many of the observed effects are due to vitamin E deficiency in particular. The signs and symptoms of abetalipoproteinemia appear in the first few months of life. They can include failure to gain weight and grow at the expected rate failure to thrive; diarrhea; abnormal star-shaped red blood cells acanthocytosis; and fatty, foul-smelling stools steatorrhea. The stool may contain large chunks of fat and or blood. Other features of this disorder may develop later in childhood and often impair the function of the nervous system. They can include poor muscle coordination, difficulty with balance and movement ataxia, and progressive degeneration of the light-sensitive layer retina at the back of the eye that can progress to near-blindness. Adults in their thirties or forties may have increasing difficulty with balance and walking. 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. Symptoms Often symptoms will arise that indicate the body is not absorbing or making the lipoproteins that it needs. These symptoms usually appear en masse, meaning that they happen all together, all the time. These symptoms come as follows: Failure to grow in infancy Fatty, pale stools Frothy stools Foul smelling stools Protruding abdomen Mental retardation/developmental delay Dyspraxia, evident by age ten Muscle weakness Slurred speech Scoliosis curvature of the spine Progressive decreased vision Balance and coordination problems Diagnosis The inability to absorb fat in the ileum will result in steatorrhea, or fat in the stool. As a result, this can be clinically diagnosed when foul-smelling stool is encountered. Low levels of plasma chylomicron are also characteristic. Acanthocytes are seen on blood smear. There is an absence of apolipoprotein B. On intestinal biopsy, vacuoles containing lipids are seen in enterocytes. Since there is no or little assimilation of chylomicrons, their levels in plasma remains low. This disorder may also result in fat accumulation in the liver hepatic steatosis. Because the epithelial cells of the bowel lack the ability to place fats into chylomicrons, lipids accumulate at the surface of the cell, crowding the functions that are necessary for proper absorption. Genetics Abetalipoproteinemia has an autosomal recessive pattern of inheritance. Abetalipoproteinemia has an autosomal recessive pattern of inheritance. Mutations in the microsomal triglyceride transfer protein MTTP gene has been associated with this condition. 3. Apolipoprotein B deficiency, a related condition, is associated with deficiencies of apolipoprotein B. The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are both necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and necessary for the efficient transport of these substances in the bloodstream. Most of the mutations in this gene lead to the production of an abnormally short microsomal triglyceride transfer protein, which prevents the normal creation of beta-lipoproteins in the body. MTTP-associated mutations are inherited in an autosomal recessive pattern, which means both copies of the gene must be faulty to produce the disease. Treatment Treatment normally consists of rigorous dieting, involving mass amounts of vitamin E. Vitamin E helps the body restore and produce lipoproteins, which people with abetalipoprotenimia usually lack. Vitamin E also helps keep skin and eyes healthy, which studies show that many males whom are affected will have vision problems later on in life. Dyspraxia and muscle weakness is usually combated with psysiotherapy, or occupational therapy. Dietary restriction of triglycerides has also been useful. References ^ Bassen FA, Kornzweig AL 1950. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 5 4: 381-87. PMID 15411425. ^ Benayoun, L; Granot, E; Rizel, L; Allon-Shalev, S; Behar, Dm; Ben-Yosef, T Apr 2007. Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. Molecular genetics and metabolism 90 4: 453-7. doi:10.1016/j.ymgme.2006.12.010. PMID 17275380. ^ Abetalipoproteinemia - Genetics Home Reference. Retrieved on 2008-02-24. External links Overview of condition at NLM Genetics Home Reference AllRefer.com Bassen-Kornzweig syndrome v d e Lipid metabolism disorders / Inborn error of lipid metabolism - dyslipidemia E78 and E71.3, 272 Hyperlipidemia Hypercholesterolemia/Hypertriglyceridemia Familial hypercholesterolemia, Combined hyperlipidemia - Xanthoma Hypolipoproteinemia Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency, Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia, Apolipoprotein B deficiency Lipodystrophy Barraquer-Simons syndrome Fatty acid metabolism deficiency transport: Carnitine Primary, I, II, -acylcarnitine - Adrenoleukodystrophy beta oxidation: Acyl CoA dehydrogenase Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain - Mitochondrial trifunctional protein deficiency to acetyl-CoA: Malonic aciduria Cholesterol synthesis Smith-Lemli-Opitz syndrome Other Sjögren-Larsson syndrome - Lipomatosis - Adiposis dolorosa - Lipoid proteinosis see also lipid metabolism enzymes, lipoprotein metabolism Retrieved from http://en..org/wiki/Abetalipoproteinemia Categories: Metabolic disorders | Genetic disorders | Autosomal recessive disorders | Lipid diseasesHidden category: Articles needing additional references from July 2008 Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages Español עברית Italiano Polski Português This page was last modified on 27 July 2008, at 07:03
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