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Sensory-motor polyneuropathy occurring in variant maple syrup urine disease

✍ Scribed by S. Harty; M. D. King; B. McCoy; D. Costigan; E. P. Treacy


Book ID
106374327
Publisher
Springer
Year
2008
Tongue
English
Weight
204 KB
Volume
31
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