Phosphofructokinase deficiency

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Phosphofructokinase deficiency Classification and external resources
ICD-10	E74.0
ICD-9	271.0
OMIM	232800
DiseasesDB	5314
eMedicine	med/913
MeSH	D006014

WikiDoc Resources for Phosphofructokinase deficiency
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Powerpoint slides on Phosphofructokinase deficiency Images of Phosphofructokinase deficiency Photos of Phosphofructokinase deficiency Podcasts & MP3s on Phosphofructokinase deficiency Videos on Phosphofructokinase deficiency
Evidence Based Medicine
Cochrane Collaboration on Phosphofructokinase deficiency Bandolier on Phosphofructokinase deficiency TRIP on Phosphofructokinase deficiency
Clinical Trials
Ongoing Trials on Phosphofructokinase deficiency at Clinical Trials.gov Trial results on Phosphofructokinase deficiency Clinical Trials on Phosphofructokinase deficiency at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Phosphofructokinase deficiency NICE Guidance on Phosphofructokinase deficiency NHS PRODIGY Guidance FDA on Phosphofructokinase deficiency CDC on Phosphofructokinase deficiency
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Commentary
Blogs on Phosphofructokinase deficiency
Definitions
Definitions of Phosphofructokinase deficiency
Patient Resources / Community
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Healthcare Provider Resources
Symptoms of Phosphofructokinase deficiency Causes & Risk Factors for Phosphofructokinase deficiency Diagnostic studies for Phosphofructokinase deficiency Treatment of Phosphofructokinase deficiency
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CME Programs on Phosphofructokinase deficiency
International
Phosphofructokinase deficiency en Espanol Phosphofructokinase deficiency en Francais
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List of terms related to Phosphofructokinase deficiency

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Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui's disease^[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.

Presentation

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

v • d • e WikiDoc Research Resources for Phosphofructokinase deficiency
Articles on Phosphofructokinase deficiency	Most recent articles on Phosphofructokinase deficiency • Most cited articles on Phosphofructokinase deficiency • Review articles on Phosphofructokinase deficiency • Articles on Phosphofructokinase deficiency in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Phosphofructokinase deficiency	Powerpoint slides on Phosphofructokinase deficiency • Images of Phosphofructokinase deficiency • Photos of Phosphofructokinase deficiency • Podcasts & MP3s on Phosphofructokinase deficiency • Videos on Phosphofructokinase deficiency
Evidence Based Medicine Regarding Phosphofructokinase deficiency	Cochrane Collaboration on Phosphofructokinase deficiency • Bandolier on Phosphofructokinase deficiency • TRIP on Phosphofructokinase deficiency
Cost Effectiveness of Phosphofructokinase deficiency	Cost Effectiveness of Phosphofructokinase deficiency
Clinical Trials Involving Phosphofructokinase deficiency	Ongoing Trials on Phosphofructokinase deficiency at Clinical Trials.gov • Trial results on Phosphofructokinase deficiency • Clinical Trials on Phosphofructokinase deficiency at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Phosphofructokinase deficiency	US National Guidelines Clearinghouse on Phosphofructokinase deficiency • NICE Guidance on Phosphofructokinase deficiency • NHS PRODIGY Guidance • FDA on Phosphofructokinase deficiency • CDC on Phosphofructokinase deficiency
Textbook Information on Phosphofructokinase deficiency	Books and Textbook Information on Phosphofructokinase deficiency
Pharmacology Resources on Phosphofructokinase deficiency	Dosing of Phosphofructokinase deficiency • Drug interactions with Phosphofructokinase deficiency • Side effects of Phosphofructokinase deficiency • Allergic reactions to Phosphofructokinase deficiency • Overdose information on Phosphofructokinase deficiency • Carcinogenicity information on Phosphofructokinase deficiency • Phosphofructokinase deficiency in pregnancy • Pharmacokinetics of Phosphofructokinase deficiency •
Genetics, Pharmacogenomics, and Proteinomics of Phosphofructokinase deficiency	Genetics of Phosphofructokinase deficiency • Pharmacogenomics of Phosphofructokinase deficiency • Proteomics of Phosphofructokinase deficiency
Newstories on Phosphofructokinase deficiency	Phosphofructokinase deficiency in the news • Be alerted to news on Phosphofructokinase deficiency • News trends on Phosphofructokinase deficiency
Commentary on Phosphofructokinase deficiency	Blogs on Phosphofructokinase deficiency
Patient Resources on Phosphofructokinase deficiency	Patient resources on Phosphofructokinase deficiency • Discussion groups on Phosphofructokinase deficiency • Patient Handouts on Phosphofructokinase deficiency • Directions to Hospitals Treating Phosphofructokinase deficiency • Risk calculators and risk factors for Phosphofructokinase deficiency
Healthcare Provider Resources on Phosphofructokinase deficiency	Symptoms of Phosphofructokinase deficiency • Causes & Risk Factors for Phosphofructokinase deficiency • Diagnostic studies for Phosphofructokinase deficiency • Treatment of Phosphofructokinase deficiency
Continuing Medical Education (CME) Programs on Phosphofructokinase deficiency	CME Programs on Phosphofructokinase deficiency
International Resources on Phosphofructokinase deficiency	Phosphofructokinase deficiency en Espanol • Phosphofructokinase deficiency en Francais
Business Resources on Phosphofructokinase deficiency	Phosphofructokinase deficiency in the Marketplace • Patents on Phosphofructokinase deficiency
Informatics Resources on Phosphofructokinase deficiency	List of terms related to Phosphofructokinase deficiency

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .