Phosphoglycerate Kinase Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Phosphoglycerate Kinase Deficiency is not the name you expected.
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 liability); 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.
CLIMB (Children Living with Inherited Metabolic Diseases)
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Genetic and Rare Diseases (GARD) Information Center
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- Fax: (301)251-4911
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- Website: http://rarediseases.info.nih.gov/GARD/
Muscular Dystrophy Association
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
- Office of Communications & Public Liaison
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- Bethesda, MD 20892-2560
- Tel: (301)496-3583
- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 8/6/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
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