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14-September-2008 10:43:22 - Carnitine-acylcarnitine translocase deficiency February 2008 Carnitine-acylcarnitine translocase deficiency Classification and external resources ICD-9 272.8 Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme that prevents long-chain fatty acids from being transported into the innermost part of the mitochondria for processing. Contents 1 Presentation 2 Pathiophysiology 3 See also 4 External links Presentation The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours of life. Seizures, an irregular heartbeat, and breathing problems are often the first signs of this disorder. This disorder may also cause extremely low levels of ketones products of fat breakdown that are used for energy and low blood sugar hypoglycemia. Together, these two signs are called hypoketotic hypoglycemia. Other signs that are often present include ammonia in the blood hyperammonemia, an enlarged liver hepatomegaly, heart abnormalities cardiomyopathy, and muscle weakness. This disorder can cause sudden infant death. Pathiophysiology Carnitine-acylcarnitine translocase deficiency has an autosomal recessive pattern of inheritance. Carnitine-acylcarnitine translocase deficiency has an autosomal recessive pattern of inheritance. Mutations in the SLC25A20 gene lead to the production of a defective version of an enzyme called carnitine-acylcarnitine translocase. Acyl-CoA from cytosol to the mitochondrial matrix.gif Acyl-CoA from cytosol to the mitochondrial matrix.gif Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be broken down and processed. As a result, these fatty acids are not converted into energy, which can lead to characteristic signs and symptoms of this disorder, such as weakness, hypoglycemia, and an irregular heartbeat. Free long-chain fatty acids or those that are joined with carnitine can affect the electrical properties of cardiac cells causing an irregular heart beat arrhythmia, which can lead to cardiac arrest. Fatty acids may also build up in tissues and can damage the heart, liver, and muscles, and cause more serious complications. This condition has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - must be inherited to be affected by the disorder. The parents of a child with an autosomal recessive disorder are carriers of one copy of the defective gene, but are usually not affected by the disorder. See also Primary carnitine deficiency Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase II deficiency External links This article incorporates public domain text from The U.S. National Library of 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 Retrieved from http://en..org/wiki/Carnitine-acylcarnitine_translocase_deficiency Categories: Metabolic disorders | Genetic disorders | Autosomal recessive disorders | Rare diseases | Inborn errors of metabolismHidden categories: Articles lacking sources from February 2008 | All articles lacking sources 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 23 April 2008, at 12:59
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