BCKDBranched-Chain Alpha-Keto Acid Dehydrogenase (deficiency)
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It presents at any age, depending on residual BCKD activity.
Children or juveniles with late-onset forms of MSUD may have some form of developmental delay, depending on the residual activity of the BCKD genes.
Chuang and his team have found the responsible genes and through Retrovirus-mediated transduction of lymphoblasts from a Mennonite MSUD patient with a normal gene, were able to achieve a complete restoration of BCKD activity.