Maple syrup urine disease-therapeutic use of insulin in catabolic states
β Scribed by U. Wendel; U. Langenbeck; Ingrid Lombeck; H. J. Bremer
- Publisher
- Springer
- Year
- 1982
- Tongue
- English
- Weight
- 329 KB
- Volume
- 139
- Category
- Article
- ISSN
- 0340-6997
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
Two neonates with maple syrup urine disease were treated by exchange transfusion. Within 15 h blood leucine and K/CA concentrations were lowered from 2.6raM to 1.1raM using 570 to 620ml blood per kg body weight. The other branched-chain amino acid/keto acid pairs fell to normal. During exchange tran