Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Abstract 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 pre...

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Main Authors: Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo
Format: Article
Language:English
Published: BMC 2020-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Inborn errors of metabolism
Maple syrup urine disease
Branched-chain amino acids
Valine
Leucine
Isoleucine
Online Access:http://link.springer.com/article/10.1186/s13023-020-01590-7

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http://link.springer.com/article/10.1186/s13023-020-01590-7

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