IEMbase 0170: SARDH-related sarcosinemia
Scope
| Field | Value |
|---|---|
| IEMbase ID | 170 |
| Nosology | 2.3.02.01 |
| Gene | SARDH |
| External IDs | OMIM:268900; ORPHA:3129 |
| Generated mapping | UNMAPPED; best candidate Isovaleric_Acidemia.yaml |
| Candidate DisMech targets | None valid |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as SARDH-related sarcosine dehydrogenase deficiency, with alternate labels sarcosinemia and SDD. Treatability is marked unknown. The extracted local JSON is very sparse: sarcosine is increased in plasma and urine across age bands, and there are no clinical or treatment rows in the record.
DisMech phenotype coverage
No valid local DisMech target was found. The generated best candidate,
Isovaleric_Acidemia.yaml, is a false positive. It models IVD-related leucine
catabolism with isovaleric acid, isovalerylcarnitine, isovalerylglycine,
hyperammonemic organic-acidemia crises, and leucine-directed management. That
mechanism and biomarker profile are distinct from SARDH-related sarcosine
accumulation.
Local search found sarcosine only as pathway context inside
Dimethylglycine_Dehydrogenase_Deficiency.yaml, not as a SARDH disease entry.
Concordance and completeness
Judgement: true local gap.
IEMbase provides a biochemical-only SARDH/sarcosinemia record. DisMech does not currently have a standalone SARDH-related sarcosinemia target, and the isovaleric acidemia candidate should not be used as a pathway-neighbor substitute.
Curation actions
- Do not map this record to
Isovaleric_Acidemia.yaml. - Add a future standalone SARDH/sarcosinemia entry only if project scope keeps this sparse biochemical disorder.
- Expected minimum future coverage: SARDH, sarcosine dehydrogenase deficiency, increased plasma sarcosine, increased urinary sarcosine, and an explicit note on limited or absent clinical phenotype if supported by sources.