| Revision as of 22:28, 20 August 2008 editArcadian (talk | contribs)163,050 edits →See also: Seiichiro Tarui← Previous edit | Revision as of 11:28, 24 August 2008 edit undoRDBrown (talk | contribs)Extended confirmed users15,753 editsm Tweak cites, RareDiseasesNext edit → | ||
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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= |
'''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 |pmid=14339001 |doi= |url=}}</ref> is ] with ] inheritance. | ||
| 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 |
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 |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== | ||
| In this condition, a deficiency of the M subunit of the ] ] impairs the ability of cells such as ] and ]s to use ]s (such as ]) for energy. | In this condition, a deficiency of the M subunit of the ] ] impairs the ability of cells such as ] and ]s to use ]s (such as ]) for energy. | ||
| Unlike most other glycogen storage diseases, it directly affects ].<ref name="pmid11949936">{{cite journal |author=Nakajima H, Raben N, Hamaguchi T, Yamasaki T |title=Phosphofructokinase deficiency; past, present and future |journal=Curr. Mol. Med. |volume=2 |issue=2 |pages=197–212 |year=2002 |
Unlike most other glycogen storage diseases, it directly affects ].<ref name="pmid11949936">{{cite journal |author=Nakajima H, Raben N, Hamaguchi T, Yamasaki T |title=Phosphofructokinase deficiency; past, present and future |journal=Curr. Mol. Med. |volume=2 |issue=2 |pages=197–212 |year=2002 |pmid=11949936 |doi= |url=http://www.bentham-direct.org/pages/content.php?CMM/2002/00000002/00000002/0009M.SGM}}</ref> | ||
| ==Presentation== | ==Presentation== | ||
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| ==References== | ==References== | ||
| {{reflist|2}} | {{reflist|2}} | ||
| ==External Links== | |||
| *{{RareDiseases|5686|Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; Tarui disease}} | |||
| {{Carbohydrate metabolic pathology}} | {{Carbohydrate metabolic pathology}} | ||
Revision as of 11:28, 24 August 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.
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) - 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)CS1 maint: multiple names: authors list (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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