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Ophthalmoplegia and bulbar palsy in variant form of maple syrup urine disease

✍ Scribed by Shakuntala Chhabria; Dr Lawrence G. Tomasi; Paul W. K. Wong


Publisher
John Wiley and Sons
Year
1979
Tongue
English
Weight
212 KB
Volume
6
Category
Article
ISSN
0364-5134

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Paalman Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of panethnic distribution caused by a deficiency of the activity of branched-chain Ξ±-ketoacid dehydrogenase (BCKD) complex. Mutations in the human BCKD genes E1 Ξ± (BCKDHA), E1 Ξ² (BCKDHB) and E2 (DBT) are known to r

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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

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