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
Peritoneal dialysis in maple-syrup-urine disease: Studies on branched-chain amino and keto acids
β Scribed by U. Wendel; K. Becker; Hildegard Przyrembel; Monika Bulla; C. Manegold; Angelika Mench-Hoinowski; U. Langenbeck
- Publisher
- Springer
- Year
- 1980
- Tongue
- English
- Weight
- 562 KB
- Volume
- 134
- Category
- Article
- ISSN
- 0340-6997
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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 branchedβchain ketoβacid dehydrogenase complex. As a result, these individuals have elevated concentrations of the branchedβchain amino acids valine, isoluecine, alloβ