IEMbase 0466: SLC25A38-related mitochondrial glycine transporter deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 466 |
| Nosology | 11.1.07.01 |
| Gene | SLC25A38 |
| External IDs | OMIM:205950; ORPHA:260305 |
| Generated mapping | UNMAPPED; low candidate Primary_Carnitine_Deficiency.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive SLC25A38-related mitochondrial glycine transporter deficiency, also called pyridoxine-refractory sideroblastic anemia type 2. The biochemical row records increased serum ferritin. Characteristic clinical rows include microcytic hypochromic anemia, sideroblastic anemia, and hepatosplenomegaly. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for SLC25A38-related sideroblastic
anemia type 2. Local sideroblastic-anemia context exists in entries such as
Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml and
Pearson_Syndrome.yaml, but those model different diseases and mechanisms:
PUS1/YARS2/MT-ATP6 mitochondrial translation or complex V disease in MLASA, and
mitochondrial DNA deletion disease in Pearson syndrome. They are not a
SLC25A38 mitochondrial glycine transporter deficiency target.
The generated Primary_Carnitine_Deficiency.yaml candidate is a false
positive. Local primary carnitine deficiency is SLC22A5/OCTN2-mediated systemic
carnitine depletion with fatty-acid oxidation failure, cardiomyopathy, and
metabolic decompensation, not congenital sideroblastic anemia.
Concordance and completeness
Judgement: true SLC25A38 sideroblastic anemia type 2 local gap; reject primary carnitine deficiency as an exact mapping.
The only overlap with local files is broad anemia or mitochondrial wording. The source gene, heme/sideroblast phenotype, and proximal transporter mechanism are not represented by the generated candidate or by the existing MLASA/Pearson contexts.
Curation actions
- Keep this record unmapped until an SLC25A38 mitochondrial glycine transporter deficiency or sideroblastic anemia type 2 target exists.
- Do not map to
Primary_Carnitine_Deficiency.yaml. - Do not reuse MLASA, Pearson syndrome, or ALAS2 sideroblastic-anemia context as an exact target.
- If curated, include SLC25A38, autosomal recessive inheritance, mitochondrial glycine transport/heme-biosynthesis context, increased ferritin, microcytic hypochromic anemia, sideroblastic anemia, and hepatosplenomegaly.