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The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: Is there correlation between genotype and phenotype?
MEDIUM Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a rare hereditary disease caused by the lack of an enzyme required to convert fat to energy.
Background: Carnitine is an integral component of fatty acid transfer into the mitochondria, and also buffers excess intramitochondrial acyl-CoA. It has previously been suggested that athletes may be at risk of low carnitine status and could therefore benefit from carnitine supplementation.
Based on both dietary and in vitro studies of lipid metabolism, we hypothesized that the 2 isomers of CLA may have differing effects on acyl-CoA oxidase (ACO), 3-hydroxy, 3-methylglutaryl CoA reductase (HMG-R), and apolipoprotein A-I(Apo A-I) gene expression.
An international team of doctors recently reported successes in using ketones to treat three children with the rare genetic disease known as multiple acyl-CoA dehydrogenase deficiency, or MADD.
Calgene LLC (Davis, CA) has patented nucleic acid sequences encoding for acyl-CoA:cholesterol acyltransferase (ACAT) related proteins, wherein ACAT-like protein is active in the formation of a sterol ester and/or triacylylgycerol from a fatty acyl-CoA and sterol and/or diacylglycerol substrates.
Furthermore, an exchange between the sn2-position of PC and acyl-CoA has been observed in seeds of some species that enriches the acyl-CoA pool with 18:2-CoA and 18:3-CoA, which are then available for synthesis of PA and acylation of DAG to TAG (Somerville and Browse, 1991).
Este metabolito activo es el compuesto que impide la [beta]-oxidacion de los acidos grasos, disminuyendo en forma drastica la actividad del enzima acyl-CoA deshidrogenasa en las mitocondrias [16, 26], y bloquea la transformacion de los acidos grasos en Acetil-CoA para ser incorporado al ciclo de Krebs [21].
High levels of ethylmalonic acid in the urine may also be observed inshort-chain acyl-CoA dehydrogenase deficiency and glutaric acidemia Type II, but none of these has been associated with the major clinical features of EE.
[10] revealed that ricinoleic acid acyl-CoA does not dominate during endosperm oil formation.
To further confirm the reliability of DMRs analysis, the methylation level of four randomly selected DMRs in gene acyl-CoA oxidase 2 (ACOX2) intron, acyl-CoA synthetase long chain family member 1 (ACSL1) CDS region, and upstream regions of ras and rab interactor 2 (RIN2) and zinc finger, DHHC type containing 13 (ZDHHC13) were analyzed by BSP.
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- acyl CoA
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- Acyl CoA dehydrogenase
- acyl CoA dehydrogenase deficiency
- acyl CoA dehydrogenase deficiency
- acyl CoA dehydrogenase deficiency
- acyl CoA dehydrogenase deficiency
- Acyl Coenzyme A Oxidase
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- acyl-activating enzyme
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- acyl-CoA dehydrogenase (NADPH)
- acyl-CoA dehydrogenase family member 10
- acyl-CoA dehydrogenase family member 11
- Acyl-CoA dehydrogenase family member 8
- acyl-CoA dehydrogenase family member 9, mitochondrial
- acyl-CoA dehydrogenase family, member 10
- acyl-CoA dehydrogenase family, member 11
- acyl-CoA dehydrogenase family, member 8
- acyl-CoA dehydrogenase family, member 9
- acyl-CoA dehydrogenase NADPH
- acyl-CoA dehydrogenase short-chain deficiency
- acyl-CoA dehydrogenase type-9 deficiency
- acyl-CoA dehydrogenase very long-chain deficiency
- acyl-CoA dehydrogenase, C-2 to C-3 short chain
- acyl-CoA dehydrogenase, C-4 to C-12 straight chain
- acyl-CoA dehydrogenase, long chain
- Acyl-coa dehydrogenase, long-chain
- Acyl-CoA Dehydrogenase, Medium-Chain
- Acyl-CoA Dehydrogenase, Short-Chain
- Acyl-CoA Dehydrogenase, Short/Branched Chain
- acyl-CoA dehydrogenase, very long chain
- Acyl-CoA Dehydrogenase, Very Long-Chain
- Acyl-coa dehydrogenases
- acyl-CoA synthetase
- acyl-CoA synthetase short-chain family member 2
- Acyl-CoA Thioester Hydrolase
- acyl-coenzyme A
- acyl-coenzyme A
- acyl-Coenzyme A dehydrogenase family, member 10
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