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Maple syrup urine disease (MSUD): Screening for known mutations in Italian patients

✍ Scribed by T. Parrella; S. Surrey; A. Iolascon; M. Sartore; R. Heidenreich; G. Diamond; A. Ponzone; O. Guardamagna; A. B. Burlina; R. Cerone; R. Parini; C. Dionisi-Vici; E. Rappaport; P. Fortina


Publisher
Springer
Year
1994
Tongue
English
Weight
710 KB
Volume
17
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