Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
Tresbach RH, Sperb-Ludwig F, Ligabue-Braun R, Bitencourt FH, Tonon T, Souza CFM, Poswar FO, Leite MEQ, Amorim T, Porta G, Seda Neto J, Miura IK, Steiner CE, Martins AM, Pessoa ALS, Ribeiro EM, Schwartz IVD.
Tresbach RH, et al.
Mol Genet Metab. 2024 Sep-Oct;143(1-2):108569. doi: 10.1016/j.ymgme.2024.108569. Epub 2024 Aug 29.
Mol Genet Metab. 2024.
PMID: 39270351
Biallelic pathogenic variants cause maple syrup urine disease (MSUD) in one of the branched-chain alpha-keto acid dehydrogenase (BCKDH) complex genes (BCKDHA, BCKDHB, DBT, DLD, and PPM1K) leading to the accumulation of leucine, isoleucine, and v …
Biallelic pathogenic variants cause maple syrup urine disease (MSUD) in one of the branched-chain alpha-keto aci …