Maple syrup urine disease (MSUD) is a rare inherited disorder involving defects in the metabolism of branched-chain amino acids. Effects of the resulting by-products on the central nervous system (CNS) can lead to mental retardation, dystonia and death. Friedrich et al. report a zebrafish mutant (que) with characteristics resembling human MSUD, including increased levels of branched-chain amino acids, CNS defects and abnormal behaviour. The mutation is mapped to dbt, a homologue of human DBT, in which mutations have been associated with MSUD. The que mutant should help to better understand the mechanisms causing brain injury in individuals with MSUD and aid in the development of new therapies. Page 248
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