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14-September-2008 10:43:23 - Hypobetalipoproteinemia Hypobetalipoproteinemia Classification and external resources ICD-10 E78.6 ICD-9 272.5 eMedicine med/1117 MeSH D006995 Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B,1 below the 5th percentile.2 The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol. Notably, in people who do NOT have the genetic disorder hypobetalipoproteinemia, a low cholesterol level may be a marker for poor nutrition, wasting disease, cancer, hyperthyroidism, and liver disease. Causes One form is thought to be caused by mutated apolipoprotein B.3 Another form is associated with microsomal triglyceride transfer protein. A third form, chylomicron retention disease CRD, is associated with SARA2.4 Laboratory results Typically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80-120 mg/dL, LDL cholesterol will be around 50-80 mg/dL.citation needed References ^ Schonfeld G, Lin X, Yue P June 2005. Familial hypobetalipoproteinemia: genetics and metabolism. Cell. Mol. Life Sci. 62 12: 1372-8. doi:10.1007/s00018-005-4473-0. PMID 15818469. ^ Schonfeld G May 2003. Familial hypobetalipoproteinemia: a review. J. Lipid Res. 44 5: 878-83. doi:10.1194/jlr.R300002-JLR200. PMID 12639976. ^ Young SG, Hubl ST, Chappell DA, et al June 1989. Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B B-46. N. Engl. J. Med. 320 24: 1604-10. PMID 2725600. ^ Tarugi P, Averna M, Di Leo E, et al December 2007. Molecular diagnosis of hypobetalipoproteinemia: an ENID review. Atherosclerosis 195 2: e19-27. doi:10.1016/j.atherosclerosis.2007.05.003. PMID 17570373. 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 This medical article is a stub. Retrieved from http://en..org/wiki/Hypobetalipoproteinemia Categories: Metabolic disorders | Medicine stubsHidden categories: All articles with statements | Articles with statements since May 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 Polski This page was last modified on 13 May 2008, at 08:05
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