The intracellular concentration of free leucine, isoleucine, and valine and their metabolism were studied in lymphoblast cultures established from peripheral blood of an individual with maple syrup urine disease (MSUD) and a control subject. Branched-chain alpha-keto acid decarboxylase activity in t
Inhibition of Brain Energy Metabolism by the Branched-chain Amino Acids Accumulating in Maple Syrup Urine Disease
✍ Scribed by César A. Ribeiro; Ângela M. Sgaravatti; Rafael B. Rosa; Patrícia F. Schuck; Vanessa Grando; Anna L. Schmidt; Gustavo C. Ferreira; Marcos L. S. Perry; Carlos S. Dutra-Filho; Moacir Wajner
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 442 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0364-3190
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## Abstract Severe neurological symptoms, cerebral edema, and atrophy are common features of the inherited metabolic disorder maple syrup urine disease (MSUD). However, the pathomechanisms involved in the neuropathology of this disease are not well established. In this study, we investigated the ef
## Abstract Individuals with maple syrup urine disease (MSUD) have an inherited metabolic disorder resulting in a deficiency in the branched‐chain keto‐acid dehydrogenase complex. As a result, these individuals have elevated concentrations of the branched‐chain amino acids valine, isoluecine, allo‐