Häberle
Fakultäten » Medizinische Fakultät » Kinderspital Zürich: Medizinische Klinik » Stoffwechsel und Molekulare Pädiatrie, Abteilung für » Prof. Dr. Matthias R. Baumgartner » Häberle
Completed research project
| Title / Titel | ATYPICAL MAPLE SYRUP URINE DISEASE (MSUD): WHAT IS THE MOLECULAR GENETIC BASIS OF NON-CLASSICAL CLINICAL AND BIOCHEMICAL VARIANTS? | ||
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| Abstract (PDF, 14 KB) | |||
| Summary / Zusammenfassung | Branched chain amino acids are enzymatically degraded by the branched-chain α-ketoacid dehydrogenase complex (BCKDC). This complex comprises three subunits and is regulated by two further genes. If any of the involved genes carries a defect, MSUD can result. Beside the classical form with neonatal onset variants are described with mild clinical and biochemical course. The molecular genetic background of these variants has not yet been established. Aim of the project is to characterize MSUD variants by genetic means. This project will allow insight into the molecular background of non-classical MSUD. |
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| Keywords / Suchbegriffe | Maple syrup urine disease, MSUD, branched-chain α-ketoacid dehydrogenase complex | ||
| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
Others UBS Donation |
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| Duration of Project / Projektdauer | Dec 2008 to Feb 2010 |