IEMbase 0491: PFKM-related muscle phosphofructokinase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 491 |
| Nosology | 3.3.07.01 |
| Gene | PFKM |
| External IDs | OMIM:232800; ORPHA:371 |
| Generated mapping | MAPPED; HIGH; Glycogen_Storage_Disease_Type_VII.yaml |
| Candidate DisMech targets | Glycogen_Storage_Disease_Type_VII.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive PFKM-related muscle phosphofructokinase deficiency as glycogen storage disease type VII / Tarui disease. No treatments are listed. Biochemical rows include increased plasma creatine kinase, decreased phosphofructokinase activity in unspecified, fibroblast, and muscle contexts, decreased lactate rise in forearm exercise testing, increased muscle glycogen, normal ammonia rise in the forearm exercise test, increased bilirubin, increased reticulocytes, increased uric acid, decreased RBC 2,3-diphosphoglycerate, and possible urine myoglobin. Clinical rows include gallstones, jaundice, and the second-wind phenomenon.
DisMech phenotype coverage
Glycogen_Storage_Disease_Type_VII.yaml is the correct local target. The entry
models autosomal recessive PFKM/Tarui disease, reduced muscle
6-phosphofructokinase activity, impaired skeletal-muscle glycolysis, increased
muscle glycogen, exercise intolerance, myalgia, cramps, myoglobinuria,
hyperuricemia, hemolytic anemia, reduced erythrocyte 2,3-diphosphoglycerate,
low exercise lactate with delayed post-exercise rise, high exercise ammonia,
muscle biopsy, and ketogenic diet as a documented symptomatic approach.
Concordance and completeness
Judgement: correct generated mapping with high concordance.
IEMbase and DisMech agree on PFKM/GSD VII identity, recessive inheritance, muscle PFK deficiency, exercise lactate abnormality, increased muscle glycogen, hyperuricemia, myoglobinuria/rhabdomyolysis context, hemolysis-related RBC findings, bilirubin/reticulocyte abnormalities, and reduced RBC 2,3-diphosphoglycerate. IEMbase adds explicit gallstones, jaundice, second-wind wording, and a "normal ammonia rise" exercise-test row that should be reviewed against the DisMech evidence for high ammonia during and after exercise.
Curation actions
- Treat this as covered by
Glycogen_Storage_Disease_Type_VII.yaml. - If importing IEMbase prompts, verify gallstones, jaundice, second wind, and the apparent ammonia-profile discrepancy before adding them.
- Consider adding IEMbase's fibroblast/unspecified phosphofructokinase activity compartments only if independently supported.