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physiology","onset_id":null,"reference":"ORPHA:713","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/phosphoglycerate-kinase-deficiency\">Phosphoglycerate kinase deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene. This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy.</p><p>Mutations in the PGK1 gene reduce the activity of phosphoglycerate kinase, which disrupts energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others. Researchers speculate that different PGK1 gene mutations may have varying effects on the activity of phosphoglycerate kinase in different types of cells.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/phosphoglycerate-kinase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Phosphoglycerate kinase deficiency?"},{"bodyHtml":"<p>The other form of phosphoglycerate kinase deficiency is often called the myopathic form. It primarily affects muscles, causing progressive weakness, pain, and cramping, particularly with exercise. During exercise, muscle tissue can be broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can lead to kidney failure.</p><p>Most people with phosphoglycerate kinase deficiency have either the hemolytic form or the myopathic form. However, other combinations of signs and symptoms (such as muscle weakness with neurologic symptoms) have also been reported.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/phosphoglycerate-kinase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"phosphoglycerate-kinase-deficiency","sourceDocuments":[{"name":"Phosphoglycerate kinase deficiency","reviewed":"2011-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:12.732107+00:00","label":"Causes","pageSha256":"f30e53a90065641f4eb2fc39dc0d6105a236275e0eb5d79a9629c2f1322472af","sourceUrl":"https://medlineplus.gov/genetics/condition/phosphoglycerate-kinase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/phosphoglycerate-kinase-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Phosphoglycerate kinase deficiency"},"schemaVersion":1}