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IEMbase 0575: SERAC1-related MEGDEL syndrome

Scope

Field Value
IEMbase ID 575
Nosology 19.1.02.01
Gene SERAC1
External IDs OMIM:614739; ORPHA:352328
Generated mapping UNMAPPED; best candidate COX8A-Related_COX_Deficiency.yaml
Candidate DisMech targets No exact SERAC1/MEGDEL target found; Sengers_syndrome.yaml mentions SERAC1 only as differential context
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents SERAC1-related MEGDEL syndrome, with alternate label 3-methylglutaconic aciduria type 6 with deafness, encephalopathy, and Leigh-like syndrome. The record is autosomal recessive, idiopathic subtype, of unknown treatability, and has no treatment rows.

Biochemical rows include very high urinary 3-methylglutaconic acid, normal urinary 3-hydroxyisovaleric acid, increased anion gap, low-to-normal glucose, normal-to-high or high CSF/plasma lactate, and a positive filipin test. Clinical and characteristic rows include burst-suppression EEG, sensorineural deafness, epilepsy, failure to thrive, feeding difficulties, hypoglycemia, intellectual disability, Leigh syndrome, metabolic stroke, motor and neurologic regression, sepsis, spasticity, basal ganglia MRI abnormalities, cerebellar and cerebral atrophy, dystonia, encephalopathy, extrapyramidal signs, Leigh-like lesions, and psychomotor delay.

DisMech phenotype coverage

The generated COX8A-Related_COX_Deficiency.yaml candidate is a mitochondrial respiratory-chain neighbor, not an exact SERAC1/MEGDEL target. Sengers_syndrome.yaml mentions SERAC1-related MEGDEL as a related phospholipid-remodeling disorder, but that is differential context only and does not model SERAC1 or the MEGDEL phenotype.

Concordance and completeness

Judgement: reject the COX8A candidate; true SERAC1/MEGDEL local gap.

IEMbase provides the key curation seed: recessive SERAC1 disease, 3-methylglutaconic aciduria type 6, deafness, encephalopathy, Leigh-like basal ganglia disease, dystonia/extrapyramidal signs, regression, lactic acidosis, feeding/failure-to-thrive features, and the unusual filipin-test prompt.

Curation actions

  • Reject COX8A-Related_COX_Deficiency.yaml as an exact mapping.
  • Add SERAC1-related MEGDEL syndrome to the mitochondrial membrane biogenesis / lipid-remodeling curation backlog.
  • Preserve IEMbase 3-methylglutaconic acid, filipin, lactate, EEG, basal ganglia, deafness, regression, metabolic-stroke, and Leigh-like prompts.