| Metadata | |
|---|---|
| ID | DOID:0081446 |
| Name | dimethylglycine 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. https://pubmed.ncbi.nlm.nih.gov/11231903/, https://pubmed.ncbi.nlm.nih.gov/10102904/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DMG dehydrogenase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |