Signs and symptoms of myoglobinuria are usually nonspecific and needs some clinical prudence . Therefore, among the possible signs and symptoms to look for would be:
12.
Patients with PGAM deficiency are usually asymptomatic, except when they engage in brief, strenuous efforts which may trigger myalgias, cramps, muscle necrosis and myoglobinuria.
13.
In the long term, patients may exhibit renal failure due to the myoglobinuria, and with age, patients may exhibit progressively increasing weakness and substantial muscle loss.
14.
Tarui disease is a glycogen storage disease with symptoms including muscle weakness ( myopathy ) and exercise induced cramping and spasms, myoglobinuria ( presence of myoglobin in urine, indicating muscle destruction ) and compensated hemolysis.
15.
Deficiency in PFK leads to glycogenosis type VII ( Tarui's disease ), an autosomal recessive disorder characterised by severe nausea, vomiting, muscle cramps and myoglobinuria in response to bursts of intense or vigorous exercise.
16.
Mutations of the M subunit have been linked to the rare disease " exertional myoglobinuria " ( see OMIM article ), and mutations of the H subunit have been described but do not appear to lead to disease.
