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IEMbase 0393: SLC25A19-related Mitochondrial thiamine pyrophosphate transporter deficiency

Scope

Field Value
IEMbase ID 393
Nosology 21.2.04.01
Gene SLC25A19
External IDs OMIM:606521; ORPHA:99742
Generated mapping UNMAPPED; low candidate Glycogen_Storage_Disease_Type_I.yaml
Candidate DisMech targets No exact local target
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive SLC25A19-related mitochondrial thiamine pyrophosphate transporter deficiency, also listed as mitochondrial thiamine pyrophosphate carrier deficiency, Amish microcephaly, and bilateral striatal necrosis.

Characteristic clinical rows include basal ganglia MRI lesions, dystonia, infection-precipitated acute encephalopathy, and polyneuropathy. Biochemical rows include normal-to-increased CSF lactate and increased urinary 2-ketoglutaric acid. The treatment row lists thiamine.

DisMech phenotype coverage

There is no exact local DisMech target for SLC25A19 deficiency. The generated Glycogen_Storage_Disease_Type_I.yaml candidate is a false positive: GSD I models G6PC1/SLC37A4 glucose-6-phosphatase-system disease with fasting hypoglycemia, hepatomegaly, nephromegaly, lactic acidosis, hyperlipidemia, and hyperuricemia, not mitochondrial thiamine pyrophosphate transport.

Biotin_Thiamine_Responsive_Basal_Ganglia_Disease.yaml is better pathway/phenotype context than GSD I because both disorders involve thiamine biology and basal ganglia injury, but it is SLC19A3 transporter disease and is not an exact SLC25A19 target.

Concordance and completeness

Judgement: true SLC25A19 local gap; reject the GSD I candidate.

The IEMbase record is a mitochondrial thiamine pyrophosphate carrier disorder with basal-ganglia/striatal necrosis and infection-triggered encephalopathy. The generated candidate differs in gene, organellar compartment, pathway, and phenotype.

Curation actions

  • Keep this record unmapped until an SLC25A19 thiamine pyrophosphate transporter deficiency target exists.
  • Do not map to Glycogen_Storage_Disease_Type_I.yaml.
  • Use SLC19A3/BTBGD only as differential thiamine/basal-ganglia context.
  • If curated, include Amish microcephaly/bilateral striatal necrosis naming, CSF lactate, urinary 2-ketoglutaric acid, dystonia, polyneuropathy, infection-triggered encephalopathy, and thiamine treatment prompts.