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Description of the mutations in 15 subjects with variant forms of maple syrup urine disease

✍ Scribed by N. Flaschker; O. Feyen; S. Fend; E. Simon; P. Schadewaldt; U. Wendel


Publisher
Springer
Year
2007
Tongue
English
Weight
237 KB
Volume
30
Category
Article
ISSN
0141-8955

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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