Two different forms of maple syrup urine disease in a single family
β Scribed by U. Langenbeck
- Publisher
- Springer
- Year
- 1986
- Tongue
- English
- Weight
- 64 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0340-6717
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π SIMILAR VOLUMES
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
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