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14-September-2008 10:43:23 - Malonyl-CoA decarboxylase deficiency March 2008 Malonyl-CoA decarboxylase deficiency Classification and external resources Malonyl-CoA OMIM 248360 DiseasesDB 33804 Malonyl-CoA decarboxylase deficiency or Malonic aciduria is an autosomal recessive metabolic disorder caused by a genetic mutation which disrupts the activity of Malonyl-Coa decarboxylase. This enzyme breaks down Malonyl-CoA a fatty acid precursor and a fatty acid oxidation blocker into Acetyl-CoA and carbon dioxide. Diagnosis Without the enzymatic activity of Malonyl-CoA decarboxylase, cellular Mal-CoA increases so dramatically that at the end it is instead broken down by an unspecific short-chain acyl-CoA hydrolase which produces malonic acid and CoA. Malonic acid is a krebs cycle inhibitor preventing the cells to make ATP through oxidation. In this condition, the cells, to make ATP, are forced to increase glycolysis which produces lactic acid as a by-product. The increase of lactic and malonic acid drastically lowers blood pH, and causes both lactic and malonic aciduria acidic urine. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone hypotonia, seizures, diarrhea, vomiting, and low blood sugar hypoglycemia. A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency. This condition is very rare, as fewer than 20 cases have been reported. Pathophysiology Malonyl-CoA decarboxylase deficiency has an autosomal recessive pattern of inheritance. Malonyl-CoA decarboxylase deficiency has an autosomal recessive pattern of inheritance. Mutations in the MLYCD gene cause malonyl-CoA decarboxylase deficiency. The MLYCD gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. Within cells, this enzyme helps regulate the formation and breakdown of a certain group of fats called fatty acids. Many tissues, including heart muscle, use fatty acids as a major source of energy. Mutations in the MLYCD gene reduce or eliminate the function of malonyl-CoA decarboxylase. A lack of this enzyme disrupts the normal balance of fatty acid formation and breakdown. As a result, fatty acids cannot be converted to energy, which can lead to characteristic features of this disorder such as low blood sugar and cardiomyopathy. By-products of fatty acid processing build up in tissues, which also contributes to the signs and symptoms of malonyl-CoA decarboxylase deficiency. Malonyl-CoA decarboxylase deficiency is inherited in an autosomal recessive pattern. This means the defective gene is located on an autosome, and two copies of the defective gene - one inherited from each parent - are required to be born with the disorder. The parents of a child with an autosomal recessive disorder both carry one copy of the defective gene, but are usually not affected by the disorder. External links Overview of condition at NLM Genetics Home Reference 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 genetic disorder article is a stub. Retrieved from http://en..org/wiki/Malonyl-CoA_decarboxylase_deficiency Categories: Metabolic disorders | Genetic disorders | Autosomal recessive disorders | Rare diseases | Inborn errors of metabolism | Genetic disorder stubsHidden categories: Articles lacking sources from March 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 4 May 2008, at 03
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