IEMbase 0224: PDHX-related Pyruvate dehydrogenase E3-binding protein deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 224 |
| Nosology | 5.1.04.01 |
| Gene | PDHX |
| External IDs | OMIM:245349 |
| Generated mapping | MAPPED; Pyruvate_Dehydrogenase_Deficiency.yaml#E3-binding protein deficiency |
| Candidate DisMech targets | Pyruvate_Dehydrogenase_Deficiency.yaml#E3-binding protein deficiency |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as PDHX-related pyruvate dehydrogenase E3-binding protein deficiency, with the alternate label pyruvate dehydrogenase component X deficiency. The record is autosomal recessive and treatability is marked yes.
The biochemical rows include increased alanine, ketones, lactate, lactate/pyruvate ratio, and pyruvate, with glucose recorded as normal. Clinical rows include developmental delay, drug-resistant epilepsy, hypotonia, and seizures. Characteristic rows include corpus-callosum agenesis, failure to thrive, lactic acidosis, and microcephaly. Treatments listed by IEMbase are thiamine and ketogenic diet.
DisMech phenotype coverage
Pyruvate_Dehydrogenase_Deficiency.yaml#E3-binding protein deficiency is the
correct target. The local entry covers PDHX-related deficiency of the
E3-binding protein/protein X component of the PDH complex, autosomal recessive
inheritance, reduced pyruvate-to-acetyl-CoA flux, lactate and pyruvate
accumulation, lactic acidosis, developmental delay, hypotonia, seizures,
movement-disorder context, ketogenic diet, thiamine context, and molecular
testing.
Concordance and completeness
Judgement: correct subtype-level mapped target with high concordance.
IEMbase and DisMech agree on PDHX/E3-binding protein identity, PDH-complex subtype placement, the lactate-pyruvate biochemical pattern, lactic acidosis, developmental delay, hypotonia, seizure involvement, ketogenic diet, and thiamine. IEMbase adds useful compact rows for drug-resistant epilepsy, corpus-callosum agenesis, failure to thrive, microcephaly, and alanine/ketone measurements.
Curation actions
- Keep this record mapped to
Pyruvate_Dehydrogenase_Deficiency.yaml#E3-binding protein deficiency. - No mapping correction is needed.
- Use IEMbase as subtype-specific confirmation for PDHX seizure severity and malformation/growth features.