Article
Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
Biochimica et biophysica acta - 25 Nov 1993
Nobukuni Y, Mitsubuchi H, Hayashida Y, Ohta K, Indo Y, Ichiba Y, Endo F, Matsuda I
Abstract excerpt
Maple syrup urine disease (MSUD) is an autosomal recessive disease caused by a deficiency in subunits of the branched-chain alpha-keto-acid dehydrogenase complex (BCKDH). To characterize the mutations present in five patients with MSUD (four classic and one intermediate), three-step analyses were...
Topics
- 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
- Base Sequence
- Cell Fusion
- Cell Line
- DNA, Complementary
- Genetic Complementation Test
- Humans
- Infant, Newborn
- Ketone Oxidoreductases
- Maple Syrup Urine Disease
- Molecular Sequence Data
- Multienzyme Complexes
- Mutation