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| {{Infobox_Disease | | |||
| ⚫ | '''Phosphofructokinase |
||
| Name = {{PAGENAME}} | | |||
| Image = | | |||
| Caption = | | |||
| DiseasesDB = 5314 | | |||
| ICD10 = {{ICD10|E|74|0|e|70}} | | |||
| ICD9 = {{ICD9|271.0}} | | |||
| ICDO = | | |||
| OMIM = 232800 | | |||
| MedlinePlus = | | |||
| eMedicineSubj = med | | |||
| eMedicineTopic = 913 | | |||
| MeshID = D006014 | | |||
| }} | |||
| ⚫ | '''Phosphofructokinase deficiency''' is a ] disorder that interferes with the ability of ]s to use ]s (such as ]) for energy. | ||
| ⚫ | The term refers to similar disorders that appear in both humans and some other ]s, especially ]s. | ||
| ==Presentation== | |||
| 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. | This autosomal ] disease is characterized by signs of discolored or darker ], muscle weakness and cramps, ], and exercise intolerance. | ||
| ==Eponym== | |||
| ⚫ | The term refers to similar disorders that appear in both humans and some other ]s, especially ]s. | ||
| It is also known as Tarui's Disease.<ref>{{WhoNamedIt|synd|3022}}</ref> | |||
| ==References== | |||
| ⚫ | ] | ||
| <references/> | |||
| ⚫ | ] | ||
| {{disease-stub}} | {{disease-stub}} | ||
| {{ |
{{Metabolic pathology}} | ||
Revision as of 16:33, 28 May 2007
Medical condition| Phosphofructokinase deficiency | |
|---|---|
| Specialty | Endocrinology  |
Phosphofructokinase deficiency is a genetic disorder that interferes with the ability of muscles to use carbohydrates (such as glucose) for energy.
The term refers to similar disorders that appear in both humans and some other mammals, especially dogs.
Presentation
A major symptoms is muscle pain during intense exercise.
This autosomal recessive disease is characterized by signs of discolored or darker urine, muscle weakness and cramps, anemia, and exercise intolerance.
Eponym
It is also known as Tarui's Disease.
References
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