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HomePediatrics: Genetics and Metabolic DiseaseGenetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency)

Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency)


In 1965, Tarui presented the first description of phosphofructokinase (PFK) deficiency in 3 adult siblings (born to consanguineous parents) with exercise intolerance and easy fatigability.
Increased muscle glycogen content and high levels of hexose monophosphates were noted. In vitro assays using patient muscle specimens revealed almost undetectable PFK enzyme activity, and patient blood samples exhibited erythrocyte PFK activity at about 50% of normal activity. Tarui disease (ie, glycogen-storage disease type VII) has since been described in more than 100 patients worldwide.

Clinical history defines the 4 subtypes of Tarui disease, which include classic, infantile onset, late onset, and a hemolytic form. Symptoms of classic Tarui disease include exercise intolerance, fatigue, and myoglobinuria. Symptoms of infantile-onset Tarui disease may include hypotonia, myopathy, psychomotor retardation, cataracts, joint contractures, and death during childhood. Patients with late-onset Tarui disease may present in adulthood with progressive muscle weakness. Patients with the hemolytic form of Tarui disease do not present with muscle symptoms but rather exhibit nonspherocytic hemolytic anemia.

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