Term Name: | dimethylglycine dehydrogenase deficiency |
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Synonyms: | DMG dehydrogenase deficiency |
Definition: | 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 on chromosome 5q14. |
Ontology: | Human Disease [DOID:0081446] ( DOID:0081446 ) |