Yuanyuan Kong

Three novel ACAD8 variants in newborn-screening-positive Chinese individuals with suspected isobutyryl-CoA dehydrogenase deficiency: six genetically characterized cases and one biochemically suspected case

Abstract Background Isobutyryl-CoA dehydrogenase deficiency (IBDD) is a rare autosomal recessive organic acidemia. Here, we present the clinical, biochemical, and molecular findings from seven newborn-screening-positive individuals, of whom six were found to harbor biallelic ACAD...