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| {{Infobox_Disease |
| | #REDIRECT [[Glycogen storage disease type VII]] |
| Name = {{PAGENAME}} |
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| Image = |
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| Caption = |
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| DiseasesDB = 5314 |
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| ICD10 = {{ICD10|E|74|0|e|70}} |
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| ICD9 = {{ICD9|271.0}} |
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| ICDO = |
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| OMIM = 232800 |
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| MedlinePlus = |
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| MeshID = D006014 |
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| }}
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| {{SI}}
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| {{CMG}}
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| '''''Synonyms and Keywords:''''' Glycogenosis type 7 or Tarui disease or Glycogen storage disease type 7.
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| ==Overview==
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| Phosphofructokinase deficiency, also known as '''Glycogen storage disease type VII''' or '''Tarui's disease'''<ref>{{WhoNamedIt|synd|3022}}</ref>, 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 [[Skeletal muscle|rhabdomyocyte]]s to use [[carbohydrate]]s (such as [[glucose]]) for energy. It may affects humans as well as other mammals (especially dogs). In humans it is the least common type of [[glycogen storage disease]].
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| ==Presentation==
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| The disease presents with exercise-induced [[muscle cramps]] and [[weakness]] (sometimes [[rhabdomyolysis]]), as well as with [[hemolytic anemia]] causing dark urine a few hours later.
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| ==References==
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| {{reflist|2}}
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| {{WikiDoc Help Menu}}
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| {{WikiDoc Sources}}
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| [[Category:Disease]]
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| [[Category:Endocrinology]]
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| [[Category:Inborn errors of metabolism]]
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