Phenylbutyrate therapy for maple syrup urine disease

• Published in: Human molecular genetics Vol. 20; no. 4; pp. 631 - 640
• Main Authors: Brunetti-Pierri, Nicola, Lanpher, Brendan, Erez, Ayelet, Ananieva, Elitsa A., Islam, Mohammad, Marini, Juan C., Sun, Qin, Yu, Chunli, Hegde, Madhuri, Li, Jun, Wynn, R. Max, Chuang, David T., Hutson, Susan, Lee, Brendan
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 15.02.2011
• Subjects: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - blood; 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - metabolism; Adolescent; Adult; Amino Acids, Branched-Chain - blood; Amino Acids, Branched-Chain - metabolism; Aminoacid disorders; Animals; Biological and medical sciences; Cells, Cultured; Child; Child, Preschool; Errors of metabolism; Female; Fibroblasts - drug effects; Fibroblasts - enzymology; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Humans; Inhibitory Concentration 50; Keto Acids - blood; Keto Acids - metabolism; Male; Maple Syrup Urine Disease - blood; Maple Syrup Urine Disease - drug therapy; Maple Syrup Urine Disease - enzymology; Medical sciences; Metabolic diseases; Mice; Mice, Inbred C57BL; Molecular and cellular biology; Phenylbutyrates - metabolism; Phenylbutyrates - pharmacology; Phenylbutyrates - therapeutic use; Phosphorylation - drug effects; Young Adult; Nervous system diseases; Treatment; Leucinosis; Metabolic diseases; Genetics; Phenylbutyrate; Enzymopathy; Aminoacid disorder; Genetic disease

Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate in urea cycle disorder patients has been associated with a selective reduction in branched-chain amino acids (BCAA) in spite of adequate dietary protein intake. Based on this clinical observation, we investigated the potential of ph...