A NOVEL MUTATION IN ACADVL CAUSING VERY LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE DEFICIENCY IN A SOUTH ASIAN PEDIATRIC PATIENT: A CASE REPORT AND REVIEW OF THE LITERATURE

A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature

Abstract Background Very long-chain acyl-coenzyme-A dehydrogenase deficiency is a rare, severe life-threatening metabolic disorder of mitochondrial fatty acid oxidation, caused by mutations in ACADVL gene.Here we present a genetically confirmed case of a South Asian baby girl with severe, early-onset magic bean tiger form of very long-chain acyl-co

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