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dimethylglycine dehydrogenase deficiency

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.
Uniprot Description Disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine.
Mondo Term and Equivalent IDs
MONDO:0011610:  dimethylglycine dehydrogenase deficiency
MESH:C565278: 
Orphanet:243343: 
SCTID:719449007: 
UMLS:C1853892: