Phosphofructokinase deficiency, is a rare muscular metabolic disorder, with an autosomal recessive inheritance pattern.
It may affect humans as well as other mammals (especially dogs). It was named after the Japanese physician, Seiichiro Tarui (1927– ) who first observed the condition in 1965.
Human PFK deficiency is categorized into four types: classic, late-onset, infantile and hemolytic. These types are differentiated by age at which symptoms are observed and which symptoms present.
Classic phosphofructokinase ...
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