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Maple syrup urine disease

✍ Scribed by Crome, L. ;Dutton, G. ;Ross, C. F.

Publisher: Wiley (John Wiley & Sons)
Year: 1961
Tongue: English
Weight: 656 KB
Volume: 81
Category: Article
ISSN: 0368-3494
DOI: 10.1002/path.1700810209

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Mutations in any of the three different genes BCKDHA, BCKDHB, and DBT encoding for the E1alpha, E1beta, and E2 catalytic components of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex can cause maple syrup urine disease (MSUD). The disease presents heterogeneous clinical and molecular