Metadata | |
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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 |