Disease Information for Phosphoglycerate kinase defic/RBC

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Demographics & Risk Factors
Sex & Age Groups
Population/Child
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Burr cells on smear (Lab)
Normocytic Anemia/High Retic count
Associated Diseases & Rule outs
Rule Outs
Hemolytic anemia/autoimmune
Associated Disease & Complications
Hereditary non-spherocytic hemolytic anemia
Phosphoglycerate kinase deficiency/RBC
RBC Membrane enzyme defects
Disease Mechanism & Classification
Class
CLASS/Hematologic (category)
CLASS/Intrinsic RBC abnormality (ex)
Pathophysiology
Pathophysiology/Erythrocyte membrane disorder
Pathophysiology/Hemolytic process/effect
Process
PROCESS/Metabolic/storage disorder (category)
Definition

Phosphoglycerate kinase disease (systemic); Anemia, Hemolytic with PGK Deficiency;synonyms: Erythrocyte Phosphoglycerate Kinase Deficiency, PGK, andPhosphoglycerokinase; 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 mental retardation; 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--------------[NORD 2005]--------------

homozygous male includes systemic problems: mentally retarded with neurological syndromes; heterozygous female usually just rbc problems wuith hemolytic anemia

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External Links Related to Phosphoglycerate kinase defic/RBC
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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