Phosphoglycerate kinase deficiency.
Incidence
It is a sex linked recessive condition. Rare.
Clinical Characteristics
Phosphoglycerate kinase deficiency is a sex link recessive condition which may be clinically indistinguishable from phosphofructokinase deficiency. It is characterized clinically by cramps, muscle necrosis and myoglobinuria after strenuous exercise. Also has chronic hemolytic anemia, mental retardation and psychiatric problems. The diagnosis is made measuring the enzyme in erythrocytes.
Precipitants
Exercise may triger cramps and myoglobinuria.
Provocation Tests
Ischaemic exercise test: Lactate should increase higher than 2 mmol/L with exercise normally. In this condition, there is no increase of lactate, and cramps may appear during the test, like in McArdle disease.
Diagnostic Procedures
The diagnosis is made measuring the enzyme in erythrocytes.