Phosphoglycerate Kinase Deficiency
Systemic/MultisystemOMIM 311800
W
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Overview
From WUSTL Neuromuscular● Genetics Mutation types: Missense, Deletion & Splice site Mutation locations: All along gene except myopathic form > 20 mutations described Protein Ubiquitous expression except in sperm Glycolytic pathway Generates ATP through conversion of 1,3-DPG to 3-PGA Clinical features: Only rarely (6%) all in same patient Hemolytic anemia (HNSHA) (34%): Non-spherocytic CNS dysfunction Mental retardation Seizures Behavioral abnormalities Strokes Usually associated with anemia Muscle Myopathy (Slowly progressive) Cramps Myalgia: Exercise induced ± Myoglobinuria Laboratory Serum CK: High or Normal Ischem
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Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.