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| ==Diagnosis== | ==Diagnosis== | ||
| Other deficiency diseases with similar signs and symptoms include deficiencies of ], ], ], ] and ].<ref name="pmid18421897"/> | Other deficiency diseases with similar signs and symptoms include deficiencies of ], ], ], ] and ].<ref name="pmid18421897"/> | ||
| A diagnosis can be made through a muscle biopsy that shows excess glycogen and then further tests that will show the levels of phosphofructokinase enzyme. | |||
| ==See also== | ==See also== | ||
Revision as of 23:52, 1 November 2009
Medical condition| 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 (PFKM) 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), myoglobinuria, as well as with haemolytic anaemia causing dark urine a few hours later. Hyperuricemia is common. Phosphofructokinase deficiency also presents in a rare infantile form. The infantile form causes severe myopathy and leads to death in the infancy or early childhood.
Diagnosis
Other deficiency diseases with similar signs and symptoms include deficiencies of phosphoglycerate kinase, phosphoglycerate mutase, lactate dehydrogenase, beta-enolase and aldolase A.
A diagnosis can be made through a muscle biopsy that shows excess glycogen and then further tests that will show the levels of phosphofructokinase enzyme.
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. doi:10.1016/0006-291X(65)90156-7. 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. doi:10.2174/1566524024605734. PMID 11949936.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Toscano A, Musumeci O (2007). "Tarui disease and distal glycogenoses: clinical and genetic update". Acta Myol. 26 (2): 105–7. PMID 18421897.
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External links
- Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; Tarui disease at NIH's Office of Rare Diseases
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