maple syrup urine disease/kalij

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Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.

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We report five mutations, three of them novel, responsible for maple syrup urine disease in four unrelated Cypriot families. The five children studied are the first cases of classic maple syrup urine disease to be reported among Cypriots. The first novel mutation identified is a single-base deletion

Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.

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BACKGROUND Mutations in components of the extraordinarily large alpha-ketoacid dehydrogenase multienzyme complexes can lead to serious and often fatal disorders in humans, including maple syrup urine disease (MSUD). In order to obtain insight into the effect of mutations observed in MSUD patients,

Potassium ion ionization of desorbed species (K+IDS): a rapid method for the screening of urine for organic acidemias.

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A new desorption/ionization mass spectrometric technique, K+ ionization of desorbed species (K+IDS), is evaluated as a rapid method for differentiating various organic acidemias, conditions in which excessive levels of organic acid metabolites are present in plasma or urine as a result of some

Structure of rat BCKD kinase: nucleotide-induced domain communication in a mitochondrial protein kinase.

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Mitochondrial protein kinases (mPKs) are molecular switches that down-regulate the oxidation of branched-chain alpha-ketoacids and pyruvate. Elevated levels of these metabolites are implicated in disease states such as insulin-resistant Type II diabetes, branched-chain ketoaciduria, and primary

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