dimethylglycine dehydrogenase deficiency

An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH gene on chromosome 5q14.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Elevated circulating N,N-dimethylglycine concentration
• Increased muscle fatiguability
• Elevated urinary N,N-dimethylglycine level
• Fish odor

Also known as: DMG dehydrogenase deficiency