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A rare congenital enzymatic defect in glycolysis process, mainly located in the muscles and red blood cells.

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Glycogenosis type X.

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X-linked disorder. The enzyme is encoded by a gene located on Xq13.

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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).

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Chronic hemolytic anemia, occasional hemoglobinuria; phosphoglycerokinase activity low (<5%) in muscle cells or RBCs. Normal muscle biopsy.

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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.

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Check hemoglobin level; a long preoperative fasting time should be avoided.

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Monitor blood glucose level; in case of rhabdomyolysis, ensure increased diuresis with IV mannitol and intravascular fluid.

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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 7:111, 2000.  [PubMed: 10809925]

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