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IEMbase 0596: SLC25A26-related S-adenosylmethionine carrier deficiency

Scope

Field Value
IEMbase ID 596
Nosology 11.1.05.01
Gene SLC25A26
External IDs OMIM:616794; ORPHA:466784
Generated mapping UNMAPPED; best candidate Hyperornithinemia_Hyperammonemia_Homocitrullinuria_Syndrome.yaml
Candidate DisMech targets None exact
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents SLC25A26-related S-adenosylmethionine carrier deficiency, also labelled combined oxidative phosphorylation deficiency 28 / COXPD28. The record is autosomal recessive, classified under disorders of mitochondrial shuttles and carriers, has unknown treatability, and has no treatment rows.

Biochemical rows include decreased muscle respiratory chain activity and increased plasma pyruvate. Clinical rows include cardiopulmonary failure, developmental delay, hydrops, perinatal death, lactic acidosis, and muscle weakness.

DisMech phenotype coverage

Hyperornithinemia_Hyperammonemia_Homocitrullinuria_Syndrome.yaml is a false-positive carrier-family candidate. HHH syndrome models biallelic SLC25A15/ORNT1 mitochondrial ornithine transport failure, a urea-cycle transport disorder with hyperornithinemia, hyperammonemia, and homocitrullinuria. It does not represent SLC25A26, mitochondrial S-adenosylmethionine transport, COXPD28, respiratory-chain deficiency, hydrops, or perinatal lethal cardiopulmonary failure.

Local mitochondrial OXPHOS entries provide broad context, but no exact SLC25A26/SAM carrier deficiency target was identified.

Concordance and completeness

Judgement: true local gap; reject HHH syndrome as exact coverage.

The generated match is driven by the SLC25 mitochondrial carrier family and mitochondrial transport wording. Disease mechanism and biochemical readouts are different: SAM carrier/OXPHOS deficiency versus ornithine carrier/urea-cycle transport disease.

Curation actions

  • Create or identify an exact SLC25A26 / COXPD28 target before import.
  • Reject Hyperornithinemia_Hyperammonemia_Homocitrullinuria_Syndrome.yaml as an exact mapping.
  • Preserve respiratory-chain activity, pyruvate, lactic acidosis, hydrops, cardiopulmonary failure, perinatal death, developmental delay, and muscle weakness prompts.