Phosphofructokinase deficiency

Phosphofructokinase deficiency
ICD-10	E74.0
ICD-9	271.0
OMIM	232800
DiseasesDB	5314
MeSH	D006014

WikiDoc Resources for Phosphofructokinase deficiency
Articles
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
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
Books
Books on Phosphofructokinase deficiency
News
Phosphofructokinase deficiency in the news Be alerted to news on Phosphofructokinase deficiency News trends on Phosphofructokinase deficiency
Commentary
Blogs on Phosphofructokinase deficiency
Definitions
Definitions of Phosphofructokinase deficiency
Patient Resources / Community
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
Symptoms of Phosphofructokinase deficiency Causes & Risk Factors for Phosphofructokinase deficiency Diagnostic studies for Phosphofructokinase deficiency Treatment of Phosphofructokinase deficiency
Continuing Medical Education (CME)
CME Programs on Phosphofructokinase deficiency
International
Phosphofructokinase deficiency en Espanol Phosphofructokinase deficiency en Francais
Business
Phosphofructokinase deficiency in the Marketplace Patents on Phosphofructokinase deficiency
Experimental / Informatics
List of terms related to Phosphofructokinase deficiency

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, 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.

References

Template:WikiDoc Sources