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News About Inborn_errors_of_lipid_metabolism

14-September-2008 10:43:23 - errors of lipid metabolism Inborn errors of lipid metabolism Classification and external resources Several fatty acid molecules ICD-10 E75., E78. ICD-9 272, 277.85 MeSH D008052 Numerous genetic disorders are caused by errors in fatty acid metabolism. These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types. Some of the more common fatty acid metabolism disorders are: Contents 1 Coenzyme A dehydrogenase deficiencies 2 Other Coenzyme A enzyme deficiencies 3 Carnitine related 4 Lipid storage 5 Other 6 See also Coenzyme A dehydrogenase deficiencies Very long-chain acyl-coenzyme A dehydrogenase deficiency VLCAD - Very long-chain acyl-coenzyme A dehydrogenase Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency LCHAD - Long-chain 3-hydroxyacyl-coenzyme A Medium-chain acyl-coenzyme A dehydrogenase deficiency MCAD - Medium-chain acyl-coenzyme A dehydrogenase Short-chain acyl-coenzyme A dehydrogenase deficiency SCAD - Short-chain acyl-coenzyme A dehydrogenase 3-hydroxyacyl-coenzyme A dehydrogenase deficiency HADH - 3-hydroxyacyl-coenzyme A dehydrogenase Other Coenzyme A enzyme deficiencies 2,4 Dienoyl-CoA reductase deficiency - 2,4 Dienoyl-CoA reductase 3-hydroxy-3-methylglutaryl-CoA lyase deficiency - 3-hydroxy-3-methylglutaryl-CoA lyase Malonyl-CoA decarboxylase deficiency - Malonyl-CoA decarboxylase Carnitine related Primary carnitine deficiency - SLC22A5 carnitine transporter Carnitine-acylcarnitine translocase deficiency - Carnitine-acylcarnitine translocase Carnitine palmitoyltransferase I deficiency CPT - Carnitine palmitoyltransferase I Carnitine palmitoyltransferase II deficiency CPT - Carnitine palmitoyltransferase II Lipid storage Main article: Lipid storage disorder Acid lipase diseases Wolman disease Cholesteryl ester storage disease Gaucher disease Niemann-Pick disease Fabry disease Farber's disease Gangliosidoses Krabbé disease Metachromatic leukodystrophy Other Mitochondrial trifunctional protein deficiency Electron transfer flavoprotein ETF dehydrogenase deficiency GAII MADD Tangier disease Acute fatty liver of pregnancy See also Fatty acid synthase Essential fatty acid Fatty acid metabolism Orthomolecular medicine 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 v d e Inborn error of lipid metabolism - Lysosomal storage diseases - lipid storage disorders E75, 272.7-272.8, 330.0-330.1 Sphingolipidoses Gangliosidoses GM1 gangliosidoses GM2 gangliosidoses Sandhoff disease, Tay-Sachs disease, AB variant Sulfatidoses Multiple sulfatase deficiency - Metachromatic leukodystrophy Other Fabry's disease - Gaucher's disease sulfated: Leukodystrophy Krabbe disease ceramide: Farber disease phospholipid: Niemann-Pick disease Neuronal ceroid lipofuscinosis Infantile - Jansky-Bielschowsky disease - Batten disease Other Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease Wolman disease see also glycolipid metabolism enzymes Retrieved from http://en..org/wiki/Inborn_errors_of_lipid_metabolism Categories: Metabolic disorders | Fatty acids | Inborn errors of metabolism 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 This page was last modified on 10 May 2008, at 16:45

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