Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy
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DOI: 10.1016/j.nmd.2017.03.003
Abstract: Multiple acyl-CoA dehydrogenation deficiency is genetically heterogenous metabolic disease with mutations in genes involved in electron transfer to the mitochondrial respiratory chain. Disease symptoms vary from severe neonatal form to late-onset presentation with metabolic acidosis,… read more here.
Keywords: coa dehydrogenation; dehydrogenation deficiency; multiple acyl; acyl coa ... See more keywords