eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | myoglobinuria |
| Comorbidity | C0002871|anaemia |
| Sentences | 1 |
| PubMedID- 22133655 | Muscle phosphofructokinase (pfkm) deficiency, a rare disorder of glycogen metabolism also known as glycogen storage disease type vii (gsdvii), is characterized by exercise intolerance, myalgias, cramps and episodic myoglobinuria associated with compensated hemolytic anaemia and hyperuricemia. |
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