Phosphofructokinase deficiency: Difference between revisions
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'''''Synonyms and Keywords:''''' Glycogenosis type 7 | '''''Synonyms and Keywords:''''' Glycogenosis type 7; Tarui disease; glycogen storage disease type 7; glycogen storage disease type VII | ||
==Overview== | ==Overview== | ||
Phosphofructokinase deficiency | 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. | 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== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Disease]] | |||
[[Category:Metabolic Disorder]] | |||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
Revision as of 17:05, 19 September 2012
| Phosphofructokinase deficiency | |
| ICD-10 | E74.0 |
|---|---|
| ICD-9 | 271.0 |
| OMIM | 232800 |
| DiseasesDB | 5314 |
| MeSH | D006014 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and Keywords: Glycogenosis type 7; Tarui disease; glycogen storage disease type 7; glycogen storage disease type VII
Overview
Phosphofructokinase deficiency[1], 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). 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.