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Brief Overview:

What is Tarui disease? Tarui disease is the least common of the autosomal recessive Glycogen Storage Diseases (GSD). This particular GSD is caused by a deficiency in phosphofructokinase. Due to mutations in this enzyme energy cannot be retrieved via glycogen breakdown. This results in rhabdomyolysis (degradation of muscle tissue) in an effort to obtain enough energy to sustain activity. Due to this muscle breakdown the symptoms Tarui include fatigue and muscle pain after minor activity. In addition to this the urine may take on a red shade caused by the break down of the muscle. Treatment consists of avoiding strenuous exercise, and supplementing the diet with high protein in take has been found to be helpful. What is Phosphofructokinase-1? Phosphofructokinase-1 (PFK1) is an allosteric enzyme that catalyzes what we all know as the “committed” step during glycolysis. During this reaction, fructose 6-phosphate is converted to fructose-1,6 bisphosphate at the expense of one molecule of ATP. What Mutations cause Tauri Disease Missense, splicing, and frameshift mutations have all been identified as causes of deficient forms of the M (muscle) isoform of PFK-1. The majority of patients with Tauri disease have been found to have a G to A substitution at the 5’ donor site of the PFK-1 M gene, which results in a splicing defect and subsequent deletion of the preceding exon in the patients mRNA.  

Resources and References:

The Association for Glycogen Storage Disease has a website with several links dealing with the various GSD diseases. http://www.agsd.org.uk/ The following paper discusses the prevalence of Tarui disease in Ashkenazic Jews, and the mutations that lead to this disease Nina Rabe , et al. A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). J. Biol. Chem., Vol. 268, Issue 7, 4963-4967, 03, 1993 PDB#: 3PFK