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Case report: maple syrup urine disease with a novel DBT gene mutation
BACKGROUND: Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in four genes (BCKDHA, BCKDHB, DLD and DBT) are associated with MSUD. Here, the presenting symptoms...
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| Publicado no: | BMC Pediatr |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6909553/ https://ncbi.nlm.nih.gov/pubmed/31830945 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1880-1 |
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