IEMbase 0493: PGAM2-related muscle phosphoglycerate mutase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 493 |
| Nosology | 3.3.11.01 |
| Gene | PGAM2 |
| External IDs | OMIM:261670; ORPHA:97234 |
| Generated mapping | CANDIDATE; MEDIUM; Glycogen_Storage_Disease_Type_I.yaml |
| Candidate DisMech targets | Glycogen_Storage_Disease_Type_I.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive PGAM2-related muscle phosphoglycerate mutase deficiency as glycogen storage disease type X / DiMauro disease. No treatments are listed. Biochemical rows include increased plasma creatine kinase, decreased muscle phosphoglycerate mutase, normal-to-increased muscle glycogen, and increased urine myoglobin. No clinical rows are listed in the local JSON.
DisMech phenotype coverage
Glycogen_Storage_Disease_Type_I.yaml is not the correct target. It covers
G6PC1/SLC37A4 glucose-6-phosphatase system deficiency and hepatic/renal
fasting-hypoglycemia biology. It does not model PGAM2, muscle
phosphoglycerate mutase deficiency, GSD X, DiMauro disease, exercise-induced
myoglobinuria, or the skeletal-muscle glycolysis block implied by the IEMbase
record.
Concordance and completeness
Judgement: false-positive candidate; true PGAM2/GSD X local gap.
The generated candidate shares only broad glycogen-storage vocabulary.
IEMbase's disease is a skeletal-muscle glycolytic enzyme deficiency with CK and
myoglobinuria markers, not a hepatic glucose-6-phosphatase disorder. Local
Glycogen_Storage_Disease_Type_VII.yaml provides related glycolytic myopathy
context, but it is PFKM/Tarui disease and should not be treated as exact PGAM2
coverage.
Curation actions
- Do not map this record to
Glycogen_Storage_Disease_Type_I.yaml. - Track PGAM2-related GSD X / DiMauro disease as a local curation gap.
- Preserve IEMbase prompts for muscle phosphoglycerate mutase activity, creatine kinase, muscle glycogen, and urine myoglobin for a future exact entry.