Phosphoglycerate Kinase Deficiency

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Xu, R. Phosphoglycerate Kinase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5325 (accessed on 21 September 2026).

Xu R. Phosphoglycerate Kinase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5325. Accessed September 21, 2026.

Xu, Rita. "Phosphoglycerate Kinase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5325 (accessed September 21, 2026).

Xu, R. (2020, December 24). Phosphoglycerate Kinase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5325

Xu, Rita. "Phosphoglycerate Kinase Deficiency." Encyclopedia. Web. 24 December, 2020.

Phosphoglycerate Kinase Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/phosphoglycerate-kinase-deficiency

Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition.

genetic conditions

References

Aasly J, van Diggelen OP, Boer AM, Brønstad G. Phosphoglycerate kinasedeficiency in two brothers with McArdle-like clinical symptoms. Eur J Neurol.2000 Jan;7(1):111-3.
Beutler E. PGK deficiency. Br J Haematol. 2007 Jan;136(1):3-11. Review.
Flanagan JM, Rhodes M, Wilson M, Beutler E. The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia andneurological dysfunction in a family from USA. Br J Haematol. 2006Jul;134(2):233-7.
Noel N, Flanagan JM, Ramirez Bajo MJ, Kalko SG, Mañú Mdel M, Garcia Fuster JL,Perez de la Ossa P, Carreras J, Beutler E, Vives Corrons JL. Two newphosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain. Br J Haematol. 2006Feb;132(4):523-9. Erratum in: Br J Haematol. 2006 May;133(4):451. Flanagan, John [corrected to Flanagan, Jonathan M]; Perez de la Ossa, Pablo [added]; Carreras,Josep [added].
Sotiriou E, Greene P, Krishna S, Hirano M, DiMauro S. Myopathy andparkinsonism in phosphoglycerate kinase deficiency. Muscle Nerve. 2010May;41(5):707-10. doi: 10.1002/mus.21612.
Spiegel R, Gomez EA, Akman HO, Krishna S, Horovitz Y, DiMauro S. Myopathicform of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenicconsiderations. Neuromuscul Disord. 2009 Mar;19(3):207-11. doi:10.1016/j.nmd.2008.12.004.
Svaasand EK, Aasly J, Landsem VM, Klungland H. Altered expression of PGK1 in afamily with phosphoglycerate kinase deficiency. Muscle Nerve. 2007Nov;36(5):679-84.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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