|
|
| Line 1: |
Line 1: |
| __NOTOC__
| | #REDIRECT [[Glycogen storage disease type VII]] |
| {{Infobox_Disease |
| |
| Name = {{PAGENAME}} |
| |
| Image = |
| |
| Caption = |
| |
| DiseasesDB = 5314 |
| |
| ICD10 = {{ICD10|E|74|0|e|70}} |
| |
| ICD9 = {{ICD9|271.0}} |
| |
| ICDO = |
| |
| OMIM = 232800 |
| |
| MedlinePlus = |
| |
| MeshID = D006014 |
| |
| }}
| |
| {{SI}}
| |
| {{CMG}}
| |
| | |
| Please help WikiDoc by adding more content here. It's easy! Click [[Help:How_to_Edit_a_Page|here]] to learn about editing.
| |
| | |
| '''''Synonyms and Keywords:''''' Glycogenosis type 7; Tarui disease; glycogen storage disease type 7; glycogen storage disease type VII
| |
| | |
| ==Overview==
| |
| Phosphofructokinase deficiency<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]].
| |
| | |
| ==Symptoms==
| |
| 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.
| |
| | |
| ==References==
| |
| {{reflist|2}}
| |
| | |
| | |
| {{WikiDoc Help Menu}}
| |
| {{WikiDoc Sources}}
| |
| | |
| [[Category:Needs content]]
| |
| [[Category:Disease]]
| |
| [[Category:Endocrinology]]
| |
| [[Category:Inborn errors of metabolism]]
| |