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Revision as of 07:02, 28 February 2013

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 affect humans as well as other mammals (especially dogs). In humans it is the least common type of glycogen storage disease. It was named after the Japanese Physician, Seiichiro Tarui (1927- ), who was a native of Hyogo Prefecture in Japan.

Pathophysiology

In this condition, a deficiency of the M subunit (PFKM) of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes to use carbohydrates (such as glucose) for energy.

The mutation impairs the ability of phosphofructokinase to phosphorylate fructose-6-phosphate prior to its cleavage into glyceraldehyde-3-phosphate which enters the energy generation phase of glycolysis, effectively limiting energy production.

Unlike most other glycogen storage diseases, it directly affects glycolysis.

Presentation

The disease presents with exercise-induced muscle cramps and weakness (sometimes rhabdomyolysis), myoglobinuria, as well as with haemolytic anaemia causing dark urine a few hours later. Hyperuricemia is common. Phosphofructokinase deficiency also presents in a rare infantile form. The infantile form causes severe myopathy and leads to death in infancy or early childhood.

Diagnosis

Other deficiency diseases with similar signs and symptoms include deficiencies of phosphoglycerate kinase, phosphoglycerate mutase, lactate dehydrogenase, beta-enolase and aldolase A.

A diagnosis can be made through a muscle biopsy that shows excess glycogen and then further tests that will show the levels of phosphofructokinase enzyme.

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 (4): 517–23. doi:10.1016/0006-291X(65)90156-7. PMID 14339001.{{cite journal}}: CS1 maint: multiple names: authors list (link)
Stedman, H.; Stedman, H; Rajpurohit, Y; Henthorn, PS; Wolfe, JH; Patterson, DF; Giger, U (1996). "Molecular Basis of Canine Muscle Type Phosphofructokinase Deficiency". Journal of Biological Chemistry. 271 (33): 20070. doi:10.1074/jbc.271.33.20070. PMID 8702726.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Nakajima H, Raben N, Hamaguchi T, Yamasaki T (2002). "Phosphofructokinase deficiency; past, present and future". Curr. Mol. Med. 2 (2): 197–212. doi:10.2174/1566524024605734. PMID 11949936.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ Toscano A, Musumeci O (2007). "Tarui disease and distal glycogenoses: clinical and genetic update". Acta Myol. 26 (2): 105–7. PMC 2949577. PMID 18421897. {{cite journal}}: Unknown parameter |month= ignored (help)

External links

Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; Tarui disease at NIH's Office of Rare Diseases

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders
Including glycogen storage diseases (GSD)

Sucrose, transport
(extracellular)

Disaccharide catabolism	Congenital alactasia Sucrose intolerance
Monosaccharide transport	Glucose-galactose malabsorption Inborn errors of renal tubular transport (Renal glycosuria) Fructose malabsorption De Vivo Disease (GLUT1 deficiency) Fanconi-Bickel syndrome (GLUT2 deficiency)

Hexose → glucose

Monosaccharide catabolism

Fructose:	Essential fructosuria Fructose intolerance
Galactose / galactosemia:	GALK deficiency GALT deficiency/GALE deficiency

Glucose ⇄ glycogen

Glycogenesis

GSD type 0 (glycogen synthase deficiency)
GSD type IV (Andersen's disease, branching enzyme deficiency)
Adult polyglucosan body disease (APBD)
Lafora disease
GSD type XV (glycogenin deficiency)

Glycogenolysis

Extralysosomal:	GSD type III (Cori's disease, debranching enzyme deficiency) GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency) GSD type V (McArdle's disease, myophosphorylase deficiency) GSD type IX (phosphorylase kinase deficiency) Phosphoglucomutase deficiency (PGM1-CDG, CDG1T, formerly GSD-XIV)
Lysosomal (LSD):	Glycogen storage disease type II (Pompe's disease, glucosidase deficiency, formerly GSD-IIa) Danon disease (LAMP2 deficiency, formerly GSD-IIb)

Glucose ⇄ CAC

Glycolysis	MODY 2/HHF3 GSD type VII (Tarui's disease, phosphofructokinase deficiency) Triosephosphate isomerase deficiency Pyruvate kinase deficiency Aldolase A deficiency Phosphoglucose isomerase deficiency Phosphoglycerate kinase deficiency Mitochondrial pyruvate carrier deficiency (MPC1 deficiency)
Gluconeogenesis	Pyruvate carboxylase deficiency Fructose bisphosphatase deficiency GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency)

Pentose phosphate pathway

Glucose-6-phosphate dehydrogenase deficiency
Transaldolase deficiency
SDDHD (Transketolase deficiency)
6-phosphogluconate dehydrogenase deficiency

Other

Hyperoxaluria
- Primary hyperoxaluria
Pentosuria
Fatal congenital nonlysosomal cardiac glycogenosis (AMP-activated protein kinase deficiency, PRKAG2)

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