Article
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Orphanet journal of rare diseases - 1 Nov 2020
Margutti Ana Vitoria Barban, Silva Wilson Araújo, Garcia Daniel Fantozzi, de Molfetta Greice Andreotti, Marques Adriana Aparecida, Amorim Tatiana, Prazeres Vânia Mesquita Gadelha, Boy da Silva Raquel Tavares, Miura Irene Kazue, Seda Neto João, Santos Emerson de Santana, Santos Mara Lúcia Schmitz Ferreira, Lourenço Charles Marques, Tonon Tássia, Sperb-Ludwig Fernanda, de Souza Carolina Fischinger Moura, Schwartz Ida Vanessa Döederlein, Camelo José Simon
Abstract excerpt
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by BCKDHA, BCKDHB, DBT, and DLD genes. MSUD is predominantly caused by Variants in BCKDHA, BCKDHB, and DBT genes encoding the E1α, E1β, and E2 subunits of BCKD complex,...
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