Article
Maple syrup urine disease (MSUD): screening for known mutations in Italian patients.
Journal of inherited metabolic disease - 1 Jan 1994
Parrella T, Surrey S, Iolascon A, Sartore M, Heidenreich R, Diamond G, Ponzone A, Guardamagna O, Burlina A B, Cerone R
Abstract excerpt
Maple syrup urine disease (MSUD) is an autosomal recessive disease due to deficiency of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) caused by a large number of mutations. In the present study, DNA from Italian patients and their relatives was examined for three point mutations (Y393N...
Topics
- Alleles
- Base Sequence
- DNA Mutational Analysis
- Female
- Genetic Testing
- Humans
- Italy
- Male
- Maple Syrup Urine Disease
- Molecular Sequence Data
- Pedigree
- Polymerase Chain Reaction