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Phosphoglycerate Kinase Deficiency

Abstract

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NORD is very grateful to Jan O. Aasly, MD, PhD, Consultant Neurologist/Professor of Neurology, Department of Neurology, St. Olav's Hospital, for assistance in the preparation of this report.

Synonyms of Phosphoglycerate Kinase Deficiency

  • anemia, hemolytic with PGK deficiency
  • erythrocyte phosphoglycerate kinase deficiency
  • PGK
  • phosphoglycerokinase

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Phosphoglycerate kinase deficiency is an extremely rare inherited metabolic disorder characterized by deficiency of the enzyme phosphoglycerate kinase. This enzyme is essential for the breakdown of glycogen, resulting in the release of energy. Symptoms and findings associated with the disorder may include low levels of circulating red blood cells (hemolytic anemia); varying degrees of intellectual disability; rapidly changing emotions (emotional lability); an impaired ability to communicate through and/or to comprehend speech or writing (aphasia); exercise-induced pain, stiffness, or cramps; enlargement of the spleen (splenomegaly); and/or paralysis of one side of the body (hemiplegia). In most cases, phosphoglycerate kinase deficiency is inherited as an X-linked genetic trait. In such cases, the disorder is fully expressed in males only; however, some females who carry one copy of the disease gene (heterozygotes) may have hemolytic anemia.

Organizations related to Phosphoglycerate Kinase Deficiency

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