IEMbase 0225: PDP1-related Pyruvate dehydrogenase phosphatase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 225 |
| Nosology | 5.1.05.02 |
| Gene | PDP1 |
| External IDs | OMIM:608782 |
| Generated mapping | MAPPED; Pyruvate_Dehydrogenase_Deficiency.yaml#PDH phosphatase deficiency |
| Candidate DisMech targets | Pyruvate_Dehydrogenase_Deficiency.yaml#PDH phosphatase deficiency |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as PDP1-related pyruvate dehydrogenase phosphatase deficiency. The record is autosomal recessive and treatability is marked unknown.
The biochemical rows include increased alanine, ketones, lactate, lactate/pyruvate ratio, and pyruvate, with glucose recorded as normal. Clinical rows include developmental delay and hypotonia. Characteristic rows include failure to thrive, lactic acidosis, and seizures. Treatments listed by IEMbase are ketogenic diet and thiamine plus/minus.
DisMech phenotype coverage
Pyruvate_Dehydrogenase_Deficiency.yaml#PDH phosphatase deficiency is the
correct target. The local entry covers PDP1-related PDH phosphatase deficiency,
the PDH phosphorylation/dephosphorylation regulatory mechanism, reduced PDH
complex activity, impaired pyruvate oxidation, lactate and pyruvate
accumulation, lactic acidosis, developmental delay, hypotonia, seizures, the
ketogenic-diet bypass rationale, and broader PDH-complex molecular testing.
Concordance and completeness
Judgement: correct subtype-level mapped target with high concordance.
IEMbase and DisMech agree on PDP1/PDH phosphatase identity, pyruvate-metabolism classification, lactate-pyruvate abnormalities, lactic acidosis, developmental delay, hypotonia, seizures, ketogenic diet, and qualified thiamine context. DisMech is richer for the regulatory mechanism linking PDP1 loss to persistent PDH phosphorylation and reduced complex activity. IEMbase adds concise alanine, ketone, failure-to-thrive, and glucose-normality rows.
Curation actions
- Keep this record mapped to
Pyruvate_Dehydrogenase_Deficiency.yaml#PDH phosphatase deficiency. - No mapping correction is needed.
- Preserve the local mechanistic distinction between PDP1 regulatory disease and structural PDH-complex subunit deficiencies.