Phosphofructokinase deficiency

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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, 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 haemolytic anaemia causing dark urine a few hours later.

References

synd/3022 at Who Named It?

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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