Identification of twelve novel mutations
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Marco Henneke; Nadine Flaschker; Christoph Helbling; Martina MΓΌller; Peter Schad
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Article
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2003
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John Wiley and Sons
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English
β 39 KB
Paalman Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of panethnic distribution caused by a deficiency of the activity of branched-chain Ξ±-ketoacid dehydrogenase (BCKD) complex. Mutations in the human BCKD genes E1 Ξ± (BCKDHA), E1 Ξ² (BCKDHB) and E2 (DBT) are known to r