dimethylglycine dehydrogenase deficiency (DMGDH deficiency, DMGDHD)

Genetics

• defects in DMGDH are the cause of DMGDH deficiency

Clinical manifestations

• fish odor
• muscle fatigue

Laboratory

• increased serum creatine kinase.
• increase of N,N-dimethylglycine (DMG) in serum & urine

More general terms

• enzyme deficiency

Additional terms

• dimethylglycine dehydrogenase, mitochondrial (ME2GLYDH, DMGDH)

Database

• OMIM: https://mirror.omim.org/entry/605850