描述
Dimethylglycine Dehydrogenase Deficiency (DMGDH deficiency; Dimethylglycinuria) phenotype in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine (DMG) to form sarcosine. A defect in DMGDH results in the accumulation of N,N-dimethylglycine and creatinine kinase in serum, and N,N-dimethylglycine in urine. Symptoms of this disease include an unusual odor and muscle weakness.