IEMbase 0222: DLAT-related Dihydrolipoyl transacetylase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 222 |
| Nosology | 5.1.03.01 |
| Gene | DLAT |
| External IDs | OMIM:245348 |
| Generated mapping | MAPPED; Pyruvate_Dehydrogenase_Deficiency.yaml#E2 deficiency |
| Candidate DisMech targets | Pyruvate_Dehydrogenase_Deficiency.yaml#E2 deficiency |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as DLAT-related dihydrolipoyl transacetylase deficiency, with alternate labels pyruvate dehydrogenase E2 deficiency and PDHC E2. The record is autosomal recessive and treatability is marked yes.
The biochemical rows include increased alanine, lactate, lactate/pyruvate ratio, pyruvate, and ketones, with normal glucose. Clinical rows include developmental delay, dystonia, hypotonia, and lactic acidosis. Treatments listed by IEMbase are thiamine and ketogenic diet.
DisMech phenotype coverage
Pyruvate_Dehydrogenase_Deficiency.yaml#E2 deficiency is the correct target.
The local entry covers DLAT-related E2 deficiency, autosomal recessive PDH
complex subtype context, reduced pyruvate decarboxylation to acetyl-CoA,
lactate and pyruvate accumulation, lactic acidosis, neurodevelopmental delay,
hypotonia, movement disorders including dystonia, DLAT-associated
neurodegenerative movement/retinal syndrome, ketogenic diet, thiamine, and
molecular/biochemical testing.
Concordance and completeness
Judgement: correct subtype-level mapped target with high concordance.
IEMbase and DisMech agree on DLAT/E2 identity, PDH complex subtype placement, the lactate/pyruvate biochemical pattern, lactic acidosis, developmental delay, hypotonia, dystonia, ketogenic diet, and thiamine. DisMech is richer for the PDH complex mechanism and DLAT-associated neurodegenerative/retinal branch.
Curation actions
- Keep this record mapped to
Pyruvate_Dehydrogenase_Deficiency.yaml#E2 deficiency. - No mapping correction is needed.
- Use IEMbase as a compact confirmation of DLAT subtype biomarkers and treatment rows.