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Revision as of 00:28, 25 August 2008 by DOI bot (talk | contribs) (Citation maintenance. Added: doi. Formatted: author, title, journal, volume, pages, year. Initiated by Rcej. You can use this bot yourself! Please report any bugs.)(diff) ← Previous revision | Latest revision (diff) | Newer revision → (diff) Medical condition| Phosphofructokinase deficiency | |
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| 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.
Unlike most other glycogen storage diseases, it directly affects glycolysis.
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
References
- synd/3022 at Who Named It?
- 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}}: CS1 maint: multiple names: authors list (link) - Stedman, H. (1996). "Molecular Basis of Canine Muscle Type Phosphofructokinase Deficiency". Journal of Biological Chemistry. 271: 20070. doi:10.1074/jbc.271.33.20070. PMID 8702726.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - Nakajima H, Raben N, Hamaguchi T, Yamasaki T (2002). "Phosphofructokinase deficiency; past, present and future". Curr. Mol. Med. 2 (2): 197–212. PMID 11949936.
{{cite journal}}: CS1 maint: multiple names: authors list (link)
External Links
- Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; Tarui disease at NIH's Office of Rare Diseases
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