phosphofructokinase deficiency
MeSH: D006014ORPHA: 371
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with phosphofructokinase deficiency, sourced from HPO and Orphanet clinical annotations.
Muscle weaknessAnemiaHyperuricemiaMyotoniaSkeletal muscle atrophyIncreased muscle glycogen content
Classification & Codes
MeSH Code
D006014Orphanet Code
ORPHA:371phosphofructokinase deficiency
| MeSH | D006014 |
| Orphanet | ORPHA:371 |
| Treatments | 0 drug(s) |
| Symptoms on record | 6 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO