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| '''Phosphofructokinase deficiency''', also known as '''Glycogen storage disease type VII''' or '''Tarui's disease''',<ref>{{WhoNamedIt|synd|3022}}</ref><ref name="pmid14339001">{{cite journal |author=TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M |title=PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS |journal=Biochem. Biophys. Res. Commun. |volume=19 |issue= |pages=517–23 |year=1965 |month=May |pmid=14339001 |doi= |url=}}</ref> is ] with ] inheritance. | '''Phosphofructokinase deficiency''', also known as '''Glycogen storage disease type VII''' or '''Tarui's disease''',<ref>{{WhoNamedIt|synd|3022}}</ref><ref name="pmid14339001">{{cite journal |author=TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M |title=PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS |journal=Biochem. Biophys. Res. Commun. |volume=19 |issue= |pages=517–23 |year=1965 |month=May |pmid=14339001 |doi= |url=}}</ref> is ] with ] inheritance. | ||
| It may |
It may affect humans as well as other ]s (especially ]s).<ref name="pmid8702726">{{cite journal |author=Smith BF, Stedman H, Rajpurohit Y, ''et al'' |title=Molecular basis of canine muscle type phosphofructokinase deficiency |journal=J. Biol. Chem. |volume=271 |issue=33 |pages=20070–4 |year=1996 |month=August |pmid=8702726 |doi= |url=http://www.jbc.org/cgi/pmidlookup?view=long&pmid=8702726}}</ref> In humans it is the least common type of ]. | ||
| ==Pathophysiology== | ==Pathophysiology== | ||
Revision as of 08:01, 10 June 2008
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 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
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}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - 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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