Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.

doi:10.1016/j.ymgme.2024.108569

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Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.

Molecular genetics and metabolism - 1 Jan 2000

Tresbach Rafael Hencke, Sperb-Ludwig Fernanda, Ligabue-Braun Rodrigo, Bitencourt Fernanda Hendges de, Tonon Tássia, Souza Carolina Fischinger Moura de, Poswar Fabiano de Oliveira, Leite Maria Efigênia de Queiroz, Amorim Tatiana, Porta Gilda, Seda Neto João, Miura Irene Kazumi, Steiner Carlos Eduardo, Martins Ana Maria, Pessoa André Luiz Santos, Ribeiro Erlane Marques, Schwartz Ida Vanessa Doederlein

Abstract excerpt

Biallelic pathogenic variants cause maple syrup urine disease (MSUD) in one of the branched-chain α-keto acid dehydrogenase (BCKDH) complex genes (BCKDHA, BCKDHB, DBT, DLD, and PPM1K) leading to the accumulation of leucine, isoleucine, and valine. This study aimed to perform a molecular diagnosis of Brazilian patients with MSUD using gene panels and massive parallel sequencing. Eighteen Brazilian patients with a...

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PMID: 39270351
DOI: 10.1016/j.ymgme.2024.108569

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