![]() Whether the different findings on whole body leucine oxidation actually reflect the variability of in vivo severity in classical MSUD as opposed to the measurements in cultured cells (generally < or = 2% of control), alternative pathways of leucine oxidation in some patients or were rather attributable to inadequate classification of patients or/and to inherent methodological problems remains to be clarified. The buildup of these amino acids lead to encephalopathy and progressive neurodegeneration 9 along with other complications. However, highly variable results have been obtained with both methods not only with respect to the number of patients exhibiting measurable leucine oxidation (range: 0%-100% two to seven patients investigated) but also considering the extent of residual whole body leucine oxidation (range: < or = 2%-43% of control). Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by defects in the mitochondrial multienzyme complex branched-chain -keto acid. In terms of maple syrup urine disease, the enzyme defect occurs in the metabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. In vivo oxidation rates have been assessed in a few studies in patients with claimed classical form of MSUD, using (stable) isotopically labelled L-leucine and both the (primed) continuous infusion and the oral bolus test approach. Available information on BCAA turnover in vivo suggests that renal clearance is low and that the main route of BCAA disposal in MSUD is via protein synthesis, similar to healthy subjects. onset, leucine tolerance and/or residual enzyme activity in cells. ![]() Severity of the disease, ranging from classical to mild variant types, is commonly classified on the basis of indirect parameters, e.g. MSUD presents as a heterogeneous clinical and molecular phenotype. Normally, these amino acids are metabolized, step by step, by a number of enzymes, each of which is specific for each step in the metabolism of each amino acid. Impaired activity of the branched-chain 2-oxo acid dehydrogenase complex (BCOA-DH) causes accumulation of branched-chain L-amino (BCAA) and 2-oxo acids (BCOA) that can exert neurotoxic effects. maple syrup urine disease, inherited metabolic disorder involving leucine, isoleucine, and valine (a group of branch chain amino acids). ![]() ![]() Maple syrup urine disease (MSUD) is an autosomal recessive disorder. ![]()
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