Article
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.
American journal of human genetics - 1 Apr 2001
Binzak B A, Wevers R A, Moolenaar S H, Lee Y M, Hwu W L, Poggi-Bach J, Engelke U F, Hoard H M, Vockley J G, Vockley J
Abstract excerpt
Dimethylglycine dehydrogenase (DMGDH) (E.C. number 1.5.99.2) is a mitochondrial matrix enzyme involved in the metabolism of choline, converting dimethylglycine to sarcosine. Sarcosine is then transformed to glycine by sarcosine dehydrogenase (E.C. number 1.5.99.1). Both enzymes use flavin adenine dinucleotide and folate in their reaction mechanisms. We have identified a 38-year-old man who has a lifelong...
Topics
- Adult
- Amino Acid Sequence
- Amino Acid Substitution
- Base Sequence
- Black People
- Blotting, Western
- Cell Line
- Chronic Disease
- Cloning, Molecular
- Creatine Kinase