Journal
HUMAN MOLECULAR GENETICS
Volume 23, Issue -, Pages R1-R8Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddu123
Keywords
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Funding
- ACMG Foundation/Genzyme Biochemical Genetics Fellowship
- Clinical Scientist Development Award by the Doris Duke Charitable Foundation
- O'Malley Foundation Research Fellowship
- NIH [DK92921]
- Baylor College of Medicine General Clinical Research Center [RR00188]
- BCM Intellectual and Developmental Disabilities Research Center [HD024064]
- Eunice Kennedy Shriver National Institute Of Child Health & Human Development
- Urea Cycle Disorders Research Consortium a part of the National Institutes of Health (NIH) Rare Diseases Clinical Research Network (RDCRN) [U54 HD061221]
- NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS)
- NICHD
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Branched-chain amino acid (BCAA) metabolism plays a central role in the pathophysiology of both rare inborn errors of metabolism and the more common multifactorial diseases. Although deficiency of the branched-chain ketoacid dehydrogenase(BCKDC) and associated elevations in the BCAAs and their ketoacids have been recognized as the cause of maple syrup urine disease (MSUD) for decades, treatment options for this disorder have been limited to dietary interventions. In recent years, the discovery of improved leucine tolerance after liver transplantation has resulted in a new therapeutic strategy for this disorder. Likewise, targeting the regulation of the BCKDC activity may be an alternative potential treatment strategy for MSUD. The regulation of the BCKDC by the branched-chain ketoacid dehydrogenase kinase has also been implicated in a new inborn error of metabolism characterized by autism, intellectual disability and seizures. Finally, there is a growing body of literature implicating BCAA metabolism in more common disorders such as the metabolic syndrome, cancer and hepatic disease. This review surveys the knowledge acquired on the topic over the past 50 years and focuses on recent developments in the field of BCAA metabolism.
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