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dimethylglycine dehydrogenase deficiency (DMGDH deficiency, DMGDHD)
Genetics:
- defects in DMGDH are the cause of DMGDH deficiency
Clinical manifestations:
1) fish odor
2) muscle fatigue
Laboratory:
1) increased serum creatine kinase.
2) increase of N,N-dimethylglycine (DMG) in serum & urine
Related
dimethylglycine dehydrogenase, mitochondrial (ME2GLYDH, DMGDH)
General
enzyme deficiency
Database Correlations
OMIM 605850
References
OMIM :accession 609015