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| '''Phosphofructokinase deficiency''', also known as '''Glycogen storage disease type VII''' or '''Tarui's disease'''<ref>{{WhoNamedIt|synd|3022}}</ref> |
'''Phosphofructokinase deficiency''', also known as '''Glycogen storage disease type VII''' or '''Tarui's disease''',<ref>{{WhoNamedIt|synd|3022}}</ref><ref name="pmid14339001">{{cite journal |author=TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M |title=PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS |journal=Biochem. Biophys. Res. Commun. |volume=19 |issue= |pages=517–23 |year=1965 |month=May |pmid=14339001 |doi= |url=}}</ref> is ] with ] inheritance. | ||
| It may affects humans as well as other ]s (especially ]s). In humans it is the least common type of ]. | |||
| ==Pathophysiology== | |||
| In this condition, there is a deficiency of the M subunit of the ] ] impairs the ability of cells such as ] and ]s to use ]s (such as ]) for energy. | |||
| ==Presentation== | ==Presentation== | ||
| The disease presents with exercise-induced muscle cramps and weakness (sometimes ]), as well as with ] causing dark urine a few hours later. | The disease presents with exercise-induced muscle cramps and weakness (sometimes ]), as well as with ] causing dark urine a few hours later. | ||
| ==See also== | |||
| * ] | |||
| ==References== | ==References== | ||
Revision as of 04:19, 29 April 2008
Medical condition| Phosphofructokinase deficiency | |
|---|---|
| Specialty | Endocrinology  |
Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui's disease, is metabolic disorder with autosomal recessive inheritance.
It may affects humans as well as other mammals (especially dogs). In humans it is the least common type of glycogen storage disease.
Pathophysiology
In this condition, there is a 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.
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.
See also
References
- synd/3022 at Who Named It?
- TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M (1965). "PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS". Biochem. Biophys. Res. Commun. 19: 517–23. PMID 14339001.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
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