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

Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui's disease,^[1][2] is metabolic disorder with autosomal recessive inheritance.

It may affect humans as well as other mammals (especially dogs).^[3] In humans it is the least common type of glycogen storage disease.

Contents 1 Pathophysiology 2 Presentation 3 See also 4 References

[edit] Pathophysiology

In this condition, 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.

[edit] 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.

[edit] See also

• PFKM

[edit] References

1. ^ synd/3022 at Who Named It
2. ^ TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M (May 1965). "PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS". Biochem. Biophys. Res. Commun. 19: 517–23. PMID 14339001. 
3. ^ Smith BF, Stedman H, Rajpurohit Y, et al (August 1996). "Molecular basis of canine muscle type phosphofructokinase deficiency". J. Biol. Chem. 271 (33): 20070–4. PMID 8702726. 

v • d • e Inborn error of carbohydrate metabolism (including glycogen storage diseases) (E73-74, 271) Disaccharide catabolism Lactose intolerance - Sucrose intolerance Monosaccharide catabolism fructose: Essential fructosuria - Fructose intolerance galactose/galactosemia : Galactokinase deficiency - Galactose-1-phosphate uridylyltransferase galactosemia - Galactose epimerase deficiency Monosaccharide transport Glucose-galactose malabsorption - Inborn errors of renal tubular transport (Renal glycosuria) Glycolysis GSD type VII, Tarui's, phosphofructokinase - Triosephosphate isomerase deficiency - Pyruvate kinase deficiency Pyruvate catabolism PDHA - Fumarase deficiency Gluconeogenesis PCD - Fructose bisphosphatase deficiency - GSD type I, von Gierke, glucose 6-phosphatase Glycogenesis GSD type 0, glycogen synthase - GSD type IV, Andersen's, branching Glycogenolysis GSD type II, Pompe's, glucosidase - GSD type III, Cori's, debranching - GSD type V, McArdle, glycogen phosphorylase/GSD type VI, Hers', glycogen phosphorylase - GSD type I, von Gierke, glucose 6-phosphatas Pentose phosphate pathway Glucose-6-phosphate dehydrogenase deficiency - Pentosuria Other Hyperoxaluria see also glycolysis enzymes, pentose phosphate pathway enzymes, fructose and galactose metabolism enzymes