Article
Molecular basis of various forms of maple syrup urine disease in Chilean patients.
Molecular genetics & genomic medicine - 1 May 2021
Campanholi Diana Ruffato Resende, Margutti Ana Vitoria Barban, Silva Wilson A, Garcia Daniel F, Molfetta Greice A, Marques Adriana A, Schwartz Ida Vanessa Döederlein, Cornejo V, Hamilton Valerie, Castro Gabriela, Sperb-Ludwig Fernanda, Borges Ester S, Camelo José S
Abstract excerpt
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four genes: BCKDHA, BCKDHB, DBT, and DLD. MSUD is predominantly caused by mutations in the BCKDHA, BCKDHB, and DBT genes which encode the E1α, E1β, and E2 subunits of...
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