IEMbase 0211: DMGDH-related Dimethylglycine dehydrogenase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 211 |
| Nosology | 2.3.01.01 |
| Gene | DMGDH |
| External IDs | OMIM:605849; ORPHA:243343 |
| Generated mapping | MAPPED; Dimethylglycine_Dehydrogenase_Deficiency.yaml |
| Candidate DisMech targets | Dimethylglycine_Dehydrogenase_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as DMGDH-related dimethylglycine dehydrogenase deficiency, with alternate labels dimethylglycinuria and DMGLY. The record is autosomal recessive, marked as a benign form, and treatability is listed as unknown.
The biochemical rows are increased dimethylglycine in plasma and urine. The clinical signal is sparse: fish odor in urine is the only characteristic clinical row, and a separate row states no clinical significance. No treatment rows are listed in the cached record.
DisMech phenotype coverage
Dimethylglycine_Dehydrogenase_Deficiency.yaml is the correct target. The local
entry covers autosomal recessive DMGDH disease, mitochondrial DMGDH molecular
function deficiency, FAD/tetrahydrofolate-dependent oxidative demethylation of
dimethylglycine to sarcosine, dimethylglycine accumulation in serum and urine,
fish odor, the reported muscle-fatigue/creatine-kinase branch, molecular
testing, and supportive monitoring.
Concordance and completeness
Judgement: correct mapped target with high concordance.
IEMbase and DisMech agree on the DMGDH disease identity, recessive inheritance, dimethylglycine accumulation, and fish-odor presentation. DisMech is richer for the H109R functional mechanism, mitochondrial electron-transfer context, muscle fatigue, and elevated creatine kinase. IEMbase is more conservative about clinical significance and does not carry the muscle/CK branch.
One cross-reference caveat should be preserved for later cleanup: the IEMbase source row records OMIM:605849, while the local mapping justification cites OMIM:605850. The ORPHA and MONDO identity still support the disease mapping.
Curation actions
- Keep this record mapped to
Dimethylglycine_Dehydrogenase_Deficiency.yaml. - Consider reviewing the DMGDH OMIM cross-reference discrepancy in the mapping metadata, but do not change source values in this comparison note.
- No phenotype-enrichment action is required from IEMbase beyond the already represented dimethylglycine and fish-odor features.