Detection of heterozygotes in maple syrup urin disease: Role of lymphocyte count
β Scribed by H. Werner Goedde; Ulrich Langenbeck; Dieter Brackertz
- Publisher
- Springer
- Year
- 1968
- Tongue
- English
- Weight
- 121 KB
- Volume
- 6
- Category
- Article
- ISSN
- 0340-6717
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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
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