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| '''Phosphofructokinase deficiency''' is a ] |
'''Phosphofructokinase deficiency''', also known as Tarui's disease<ref>{{WhoNamedIt|synd|3022}}</ref>, is a ] with ] inheritance, in which deficiency of the M subunit of the ] ] impairs the ability of cells such as ] and ] to use ]s (such as ]) for energy. It may affects humans as well as other ]s (especially ]s). | ||
| The term refers to similar disorders that appear in both humans and some other ]s, especially ]s. | |||
| ==Presentation== | ==Presentation== | ||
| The disease presents with exercise-induced muscle cramps and weakness (sometimes ]), as well as with ] causing dark urine a few hours later. | |||
| A major symptoms is muscle pain during intense exercise. | |||
| This autosomal ] disease is characterized by signs of discolored or darker ], muscle weakness and cramps, ], and exercise intolerance. | |||
| ==Eponym== | |||
| It is also known as Tarui's Disease.<ref>{{WhoNamedIt|synd|3022}}</ref> | |||
| ==Classification== | |||
| It is classified as a form of ] by ], but not by ]. | |||
| ==See also== | |||
| * ] | |||
| ==References== | ==References== | ||
Revision as of 16:30, 8 July 2007
Medical condition| Phosphofructokinase deficiency | |
|---|---|
| Specialty | Endocrinology  |
Phosphofructokinase deficiency, also known as Tarui's disease, is a metabolic disorder with autosomal recessive inheritance, in which 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. It may affects humans as well as other mammals (especially dogs).
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.
References
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