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Human Disease
dimethylglycine dehydrogenase deficiency
- Term ID
- DOID:0081446
- Synonyms
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- 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. (2)
- References
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- OMIM:605850
- ORDO:243343
- Ontology
- Human Disease ( DOID:0081446 )
- is a type of
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