2-Methylbutyryl-Coa Dehydrogenase Deficiency (SBCADD)

2-Methylbutyryl-Coa Dehydrogenase Deficiency, also known as short/branched-chain acyl-coa dehydrogenase deficiency, is related to hsd10 mitochondrial disease and microcephaly, and has symptoms including lethargy and seizures. An important gene associated with 2-Methylbutyryl-Coa Dehydrogenase Deficiency is ACADSB (Acyl-CoA Dehydrogenase Short/Branched Chain). Affiliated tissues include whole blood and neutrophil, and related phenotypes are hypotonia and motor delay