A rare congenital enzymatic defect in glycolysis
process, mainly located in the muscles and red blood cells.
X-linked disorder. The enzyme is encoded by a
gene located on Xq13.
This enzyme catalyzes the interconversion of
3-phosphoglycerate and 1,3-diphosphoglycerate with the production of adenosine triphosphate (ATP).
There are several variants of the disease with variable involvement of red
cells, muscle, and central nervous system (CNS). This could be a result of organ-specific isoenzymes
being affected differently by the mutation(s).
Chronic hemolytic anemia, occasional hemoglobinuria;
phosphoglycerokinase activity low (<5%) in muscle cells or RBCs. Normal
Hemolytic anemia, mental retardation, and
myopathy may coexist or manifest in various combinations. Neonatal period: nonimmune
hydrops, jaundice, hepatomegaly, hemolytic anemia. Childhood: mild mental retardation
(delayed language), behavioral problems, seizures. Adolescence and Adulthood: nonspherocytic hemolytic
anemia; exercise-induced cramps, myalgia, and rhabdomyolysis; myoglobinuria
after vigorous exercise.
Check hemoglobin level; a long
preoperative fasting time should be avoided.
Monitor blood glucose level; in case of
rhabdomyolysis, ensure increased diuresis with IV mannitol and intravascular fluid.
Avoidance of succinylcholine because
of the risk of rhabdomyolysis.
Aasly J, van Diggelen OP, Boer AM, et al: Phosphoglycerate kinase
deficiency in two brothers with McArdle-like clinical symptoms. Eur J Neurol