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In this Issue
New zebrafish model for maple syrup urine disease
Disease Models & Mechanisms 2012 5: 147
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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

  • Written by editorial staff. © 2012. Published by The Company of Biologists Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial Share Alike License (http://creativecommons.org/licenses/by-nc-sa/3.0), which permits unrestricted non-commercial use, distribution and reproduction in any medium provided that the original work is properly cited and all further distributions of the work or adaptation are subject to the same Creative Commons License terms.

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