IEMbase 0463: SLC25A3-related mitochondrial phosphate carrier deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 463 |
| Nosology | 11.1.02.01 |
| Gene | SLC25A3 |
| External IDs | OMIM:610773; ORPHA:91130 |
| Generated mapping | UNMAPPED; low candidate 3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive SLC25A3-related mitochondrial phosphate carrier deficiency. The biochemical signal is severe neonatal or infantile plasma lactate elevation. Clinical rows include hypertrophic cardiomyopathy, delayed motor development, exercise intolerance, failure to thrive, hypotonia, myopathy, and perinatal or early infantile death. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for SLC25A3 mitochondrial phosphate carrier deficiency. No SLC25A3-specific or mitochondrial phosphate carrier deficiency file was identified.
The generated 3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml
candidate is a false positive. Local HMGCS2 deficiency is a hepatic ketogenesis
disorder with hypoketotic metabolic decompensation during fasting or illness.
It does not model mitochondrial phosphate transport, cardiomyopathic
mitochondrial energy failure, or the SLC25A3 disease entity.
Concordance and completeness
Judgement: true SLC25A3 mitochondrial phosphate carrier deficiency local gap; reject HMG-CoA synthase deficiency as an exact mapping.
The generated candidate shares nonspecific lactate/metabolic-disease vocabulary only. The gene, transporter mechanism, affected mitochondrial process, and cardiomyopathy-dominant phenotype differ.
Curation actions
- Keep this record unmapped until an SLC25A3 mitochondrial phosphate carrier deficiency target exists.
- Do not map to
3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml. - If curated, include SLC25A3, autosomal recessive inheritance, mitochondrial phosphate carrier dysfunction, severe neonatal or infantile lactate elevation, hypertrophic cardiomyopathy, hypotonia, myopathy, exercise intolerance, delayed motor development, failure to thrive, and early death.