IEMbase 0580: MTHFS-related 5,10-methenyltetrahydrofolate synthetase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 580 |
| Nosology | 21.8.07.01 |
| Gene | MTHFS |
| External IDs | OMIM:604197 |
| Generated mapping | UNMAPPED; best candidate Carbamoyl_Phosphate_Synthetase_I_Deficiency.yaml |
| Candidate DisMech targets | None exact |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents MTHFS-related 5,10-methenyltetrahydrofolate synthetase deficiency, with alternate label 5-formyltetrahydrofolate cycloligase. The record is autosomal recessive, classified under disorders of folate metabolism, has unknown treatability, and lists 5-methyltetrahydrofolate plus methylcobalamin.
The characteristic biochemical row is very decreased CSF 5-MTHF. Clinical rows include feeding difficulties, hyperthermia, intellectual disability, recurrent infections, and short stature.
DisMech phenotype coverage
Carbamoyl_Phosphate_Synthetase_I_Deficiency.yaml is a false-positive
candidate. It models CPS1-related urea-cycle failure with hyperammonemia, low
citrulline, and urea-cycle decompensation rather than MTHFS-related folate
one-carbon metabolism.
The local knowledge base has related folate/remethylation and cerebral-folate context, but no exact MTHFS / 5-formyltetrahydrofolate cycloligase disease target was identified.
Concordance and completeness
Judgement: true local gap; reject CPS1 deficiency as an exact target.
The distinguishing IEMbase signal is a folate-metabolism disorder with low CSF 5-MTHF and folate-directed treatment rows. The generated CPS1 candidate shares only broad metabolic-disease neighborhood and does not match gene, pathway, biomarker, or treatment.
Curation actions
- Create or identify an exact MTHFS deficiency target before import.
- Reject
Carbamoyl_Phosphate_Synthetase_I_Deficiency.yamlas an exact mapping. - Preserve the CSF 5-MTHF, folate/cobalamin treatment, recurrent-infection, hyperthermia, feeding, growth, and intellectual-disability prompts.