Inhibition of Brain Energy Metabolism by the Branched-chain Amino Acids Accumulating in Maple Syrup Urine Disease

Author:

Ribeiro César A.,Sgaravatti Ângela M.,Rosa Rafael B.,Schuck Patrícia F.,Grando Vanessa,Schmidt Anna L.,Ferreira Gustavo C.,Perry Marcos L. S.,Dutra-Filho Carlos S.,Wajner Moacir

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine,Biochemistry

Reference55 articles.

1. Chuang DT, Shih VE (2001) Maple Syrup Urine Disease (Branched-chain ketoaciduria). In: Scriver CR, Beaudet AL, Sly WL, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1971–2005

2. Yeman SJ (1986) The mammalian 2-oxoacid dehydrogenase: a complex family. Trends Biochem Sci. 11:293–296

3. Treacy E, Clow CL, Reade TR et al (1992) Maple syrup urine disease: interrelationship between branched chain amino-, oxo-, and hydroxyacids; implications for treatment; association with CNS dysmelination. J Inher Metab Dis 15:121–135

4. Nyhan WL (1984) Abnormalities in amino acid metabolism in clinical medicine. Appleton-Centurty-Crofts, Norwalk, pp 21–35

5. Scriver CR, Clow CL, George HG (1985) So-called thiamin-responsive maple syrup urine disease: 15-year follow-up of the original patient. J Pediatr 107:763–765

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