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
Ophthalmoplegia and bulbar palsy in variant form of maple syrup urine disease
β 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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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
We report on 2 women with organic acidemias, one with classical maple syrup urine disease and another with mild propionic acidemia in which protein restricted diets and carnitine supplementation were successfully employed to manage pregnancies. Healthy infants were delivered without maternal metabol