IEMbase 0029: SUOX-related isolated sulfite oxidase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 29 |
| Nosology | 1.5.09.01 |
| Gene | SUOX |
| External IDs | OMIM:272300 |
| Generated mapping | UNMAPPED; best fuzzy candidate SCO1-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | none currently valid |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents isolated sulfite oxidase deficiency. Characteristic clinical features are psychomotor delay and pharmacoresistant seizures. Additional clinical findings include neonatal seizures, axial hypotonia, peripheral hypertonia, movement abnormality, feeding difficulties, microcephaly, hemiplegia, ectopia lentis, cerebral and cerebellar atrophy, cystic white-matter changes, and ventriculomegaly.
The biochemical profile is distinctive for sulfite metabolism: high S-sulfocysteine in plasma and urine, high taurine, high thiosulfate, high sulfite, low total homocysteine, normal methionine, normal plasma/urine uric acid, and secondary alpha-aminoadipic semialdehyde, pipecolic acid, and low CSF PLP signals. No treatments are listed.
DisMech phenotype coverage
There is no current DisMech entry for isolated SUOX deficiency. The fuzzy
candidate SCO1-Related_COX_Deficiency.yaml is a false positive. SCO1-related
COX deficiency is a mitochondrial complex IV assembly disorder with copper
delivery/COX dysfunction, hepatic failure, encephalopathy, seizures,
hypopituitarism, and lactic acidosis. It does not model sulfite/sulfocysteine
accumulation, ectopia lentis, or the SUOX-specific biochemical pattern.
Concordance and completeness
Judgement: generated status is correctly unmapped; the SCO1 candidate is not a valid disease target.
IEMbase gives enough phenotype and laboratory structure for a future isolated sulfite oxidase deficiency entry. A future curation should also distinguish isolated SUOX deficiency from molybdenum cofactor deficiency, where uric acid patterns and broader cofactor biology differ.
Curation actions
- Do not map this record to
SCO1-Related_COX_Deficiency.yaml. - Consider a future isolated sulfite oxidase deficiency entry if sulfur amino-acid disorders are being expanded.
- Preserve the discriminating labs: high sulfite/S-sulfocysteine with normal uric acid and normal methionine.