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Maple syrup urine disease-therapeutic use of insulin in catabolic states

✍ 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

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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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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