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4th Amino Acid Assessment Workshop

Markers Associated with Inborn Errors of Metabolism of Branched-Chain Amino Acids and Their Relevance to Upper Levels of Intake in Healthy People: An Implication from Clinical and Molecular Investigations on Maple Syrup Urine Disease^1,2

Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, Japan and ^* Faculty of Child Nutrition, Kagawa Nutrition University, Toshima-ku, Tokyo 170-8481, Japan

³To whom correspondence should be addressed. E-mail: fendo{at}kumamoto-u.ac.jp.

Maple syrup urine disease (MSUD) is caused by a deficiency in the branched-chain -ketoacid dehydrogenase complex. Accumulations of branched-chain amino acids (BCAAs) and branched-chain -ketoacids (BCKAs) in patients with MSUD induce ketoacidosis, neurological disorders, and developmental disturbance. BCAAs and BCKAs influence on the nervous system can be estimated by analyzing these patients. According to clinical investigations on MSUD patients, leucine levels over 400 µmol/L apparently can cause any clinical problem derived from impaired function of the central nervous system. Damage to neuronal cells found in MSUD patients are presumably because of higher concentrations of both blood BCAAs or BCKAs, especially -ketoisocapronic acids. These clinical data from MSUD patients provide a valuable basis on understanding leucine toxicity in the normal subject.

KEY WORDS: • maple syrup urine disease • leucine • branched-chain amino acid • branched-chain -ketoacid • branched-chain -ketoacid dehydrogenase

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