IEMbase 0218: PC-related Pyruvate carboxylase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 218 |
| Nosology | 3.2.03.01 |
| Gene | PC |
| External IDs | OMIM:266150 |
| Generated mapping | UNMAPPED; best candidate Pyruvate_Carboxylase_Deficiency_Disease.yaml |
| Candidate DisMech targets | Pyruvate_Carboxylase_Deficiency_Disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as PC-related pyruvate carboxylase deficiency, with the alternate label PCD. The record is autosomal recessive and treatability is marked unknown.
The biochemical rows include increased alanine, citrulline, lysine, ketones, ammonia, lactate, lactate/pyruvate ratio, and 3-OH-butyrate/acetoacetate ratio, with decreased glucose and decreased pyruvate carboxylase activity in fibroblasts. Clinical rows include absent myelination, basal ganglia MRI abnormalities, developmental delay, hepatomegaly, hypoglycemia, muscular hypotonia, leukodystrophy, liver dysfunction, fatty liver, renal tubular acidosis, and seizures. No treatment rows are listed in the cached record.
DisMech phenotype coverage
Pyruvate_Carboxylase_Deficiency_Disease.yaml is the correct target despite
the generated UNMAPPED status. The local entry covers biallelic PC disease,
pyruvate carboxylase activity loss, impaired pyruvate-to-oxaloacetate
conversion, impaired gluconeogenesis, impaired anaplerosis, lactate
accumulation, lactic acidosis, ketonuria, hypoglycemia, secondary urea-cycle
perturbation, hypercitrullinemia, hyperammonemia, neurologic dysfunction,
developmental delay, hypotonia, seizures, delayed myelination, and type A/B/C
subtypes.
Concordance and completeness
Judgement: generated false negative; resolve to
Pyruvate_Carboxylase_Deficiency_Disease.yaml.
IEMbase and DisMech agree on PC disease identity, autosomal recessive inheritance, the enzyme defect, lactic acidosis/lactate accumulation, hypoglycemia, ketone abnormalities, citrulline/ammonia abnormalities, developmental delay, hypotonia, seizures, and myelination/CNS involvement. IEMbase adds useful granular analytes, especially alanine, lysine, lactate/pyruvate ratio, 3-OH-butyrate/acetoacetate ratio, fatty liver, and renal tubular acidosis. DisMech is richer for mechanism, subtype framing, and triheptanoin/anaplerosis treatment context.
Curation actions
- Correct the generated UNMAPPED status to
Pyruvate_Carboxylase_Deficiency_Disease.yaml. - Consider adding IEMbase's renal tubular acidosis, fatty liver, and specific amino-acid/redox-ratio biomarker leads if supported by source evidence.
- No new PC disease file is needed.