![]() Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be degraded and processed. Mutations in the ACADVL gene lead to inadequate levels of an enzyme called very long-chain acyl-coenzyme A (CoA) dehydrogenase. Due to this mutation, effective levels of very long-chain-acyl-CoA-dehydrogenase are low or absent in the body, giving rise to the array of symptoms listed above. All of which cause the enzyme to function differently in the mitochondria, or in some cases not at all. These can range from frameshift mutations, deletion mutations, insertion mutations, and missense mutations. This mutation occurs on chromosome 17 and can be altered via a variety of pathways. A change of the gene that codes for very long-chain-acyl-CoA-dehydrogenase (VLCAD) results in a deficiency or malfunction of the produced VLCAD enzyme. VLCAD (very long-chain-acyl-dehydrogenase) deficiency is exclusively linked to genetic mutations in DNA. ![]()
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