Article
Molecular genetics of maple syrup urine disease in the Turkish population.
The Turkish journal of pediatrics - 1 Jan 2000
Gorzelany Kerstin, Dursun Ali, Coşkun Turgay, Kalkanoğlu-Sivri Serap H, Gökçay Gülden Fatma, Demirkol Mübeccel, Feyen Oliver, Wendel Udo
Abstract excerpt
In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1alpha, E1beta and E2 subunits of the multienzyme branched-chain alpha-keto acid dehydrogenase (BCKDH) complex. Here we summarize the MSUD genotypes of a cohort of 32 unrelated Turkish patients in whom both alleles at a single gene locus harbored presumable disease-causing nucleotide...
Topics
- 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
- Codon, Nonsense
- Cohort Studies
- Consanguinity
- Genotype
- Homozygote
- Humans
- Maple Syrup Urine Disease
- Molecular Biology
- Mutation
- Mutation, Missense
- Point Mutation
- Turkey