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Phosphofructokinase deficiency
Specialty	Endocrinology

Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui's disease, is metabolic disorder with autosomal recessive inheritance.

It may affect humans as well as other mammals (especially dogs). In humans it is the least common type of glycogen storage disease.

Pathophysiology

In this condition, a deficiency of the M subunit of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes to use carbohydrates (such as glucose) for energy.

Presentation

The disease presents with exercise-induced muscle cramps and weakness (sometimes rhabdomyolysis), as well as with haemolytic anaemia causing dark urine a few hours later.

See also

• PFKM

References

1. synd/3022 at Who Named It?
2. TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M (1965). "Phosphofructokinase Deficiency In Skeletal Muscle. A New Type Of Glycogenosis". Biochem. Biophys. Res. Commun. 19: 517–23. PMID 14339001. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
3. Smith BF, Stedman H, Rajpurohit Y; et al. (1996). "Molecular basis of canine muscle type phosphofructokinase deficiency". J. Biol. Chem. 271 (33): 20070–4. PMID 8702726. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)

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