IEMbase 0223: DLD-related Dihydrolipoyl dehydrogenase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 223 |
| Nosology | 5.1.05.01 |
| Gene | DLD |
| External IDs | OMIM:248600 |
| Generated mapping | MAPPED; Pyruvate_Dehydrogenase_Deficiency.yaml#E3 deficiency |
| Candidate DisMech targets | Pyruvate_Dehydrogenase_Deficiency.yaml#E3 deficiency |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as DLD-related dihydrolipoyl dehydrogenase deficiency, with the alternate label pyruvate dehydrogenase E3 deficiency. The record is autosomal recessive and treatability is marked unknown.
The biochemical rows include branched-chain amino acids, 2-ketoadipic acid, 2-ketoglutaric acid, glucose, lactate, and the lactate/pyruvate ratio. Clinical rows include corpus-callosum agenesis or hypogenesis, developmental delay, Leigh syndrome, myoglobinuria, and spasticity. Characteristic rows include progressive generalized hypotonia, recurrent acute liver failure, microcephaly, and myopathy. Treatments listed by IEMbase are thiamine, fasting avoidance, and ketogenic diet.
DisMech phenotype coverage
Pyruvate_Dehydrogenase_Deficiency.yaml#E3 deficiency is the correct target.
The local entry covers DLD-related E3 deficiency as a PDH-complex subtype,
DLD-associated overlap with branched-chain ketoacid dehydrogenase dysfunction,
lactic acidosis, delayed development, later neurologic disease, liver disease,
hepatic failure, hypoglycemia, vomiting, hepatomegaly, hepatic encephalopathy,
transaminase elevation, elevated branched-chain amino acids, ketogenic diet,
and thiamine as selected PDH-complex therapy context.
Concordance and completeness
Judgement: correct subtype-level mapped target with high concordance.
IEMbase and DisMech agree on DLD/E3 identity, pyruvate-metabolism placement, lactate-pyruvate abnormalities, developmental and neurologic involvement, hepatic disease, branched-chain amino-acid abnormalities, ketogenic diet, and thiamine. IEMbase adds compact prompts for 2-ketoadipic/2-ketoglutaric acid, myoglobinuria, recurrent acute liver failure, corpus-callosum anomalies, and explicit fasting avoidance.
Curation actions
- Keep this record mapped to
Pyruvate_Dehydrogenase_Deficiency.yaml#E3 deficiency. - No mapping correction is needed.
- Consider IEMbase-only DLD crisis and organic-acid rows as future enrichment prompts if this subtype is split further.