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Xu, R. Phosphoglycerate Dehydrogenase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5323 (accessed on 21 September 2026).
Xu R. Phosphoglycerate Dehydrogenase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5323. Accessed September 21, 2026.
Xu, Rita. "Phosphoglycerate Dehydrogenase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5323 (accessed September 21, 2026).
Xu, R. (2020, December 24). Phosphoglycerate Dehydrogenase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5323
Xu, Rita. "Phosphoglycerate Dehydrogenase Deficiency." Encyclopedia. Web. 24 December, 2020.
Phosphoglycerate Dehydrogenase Deficiency
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/phosphoglycerate-dehydrogenase-deficiency

Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). Different types of phosphoglycerate dehydrogenase deficiency have been described; they are distinguished by their severity and the age at which symptoms first begin. Most affected individuals have the infantile form, which is the most severe form, and are affected from infancy. Symptoms of the juvenile and adult types appear later in life; these types are very rare.

genetic conditions

References

  1. de Koning TJ, Klomp LW, van Oppen AC, Beemer FA, Dorland L, van den Berg I,Berger R. Prenatal and early postnatal treatment in3-phosphoglycerate-dehydrogenase deficiency. Lancet. 2004 Dec18-31;364(9452):2221-2.
  2. de Koning TJ, Klomp LW. Serine-deficiency syndromes. Curr Opin Neurol. 2004Apr;17(2):197-204. Review.
  3. Kraoua I, Wiame E, Kraoua L, Nasrallah F, Benrhouma H, Rouissi A, Turki I,Chaabouni H, Briand G, Kaabachi N, Van Schaftingen E, Gouider-Khouja N.3-Phosphoglycerate dehydrogenase deficiency: description of two new cases inTunisia and review of the literature. Neuropediatrics. 2013 Oct;44(5):281-5. doi:10.1055/s-0033-1338133.
  4. Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW.Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributedthroughout the protein and result in altered enzyme kinetics. Hum Mutat. 2009May;30(5):749-56. doi: 10.1002/humu.20934.
  5. Tabatabaie L, Klomp LW, Berger R, de Koning TJ. L-serine synthesis in thecentral nervous system: a review on serine deficiency disorders. Mol Genet Metab.2010 Mar;99(3):256-62. doi: 10.1016/j.ymgme.2009.10.012.Review.
  6. Tabatabaie L, Klomp LW, Rubio-Gozalbo ME, Spaapen LJ, Haagen AA, Dorland L, deKoning TJ. Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenasedeficiency. J Inherit Metab Dis. 2011 Feb;34(1):181-4. doi:10.1007/s10545-010-9249-5.
  7. van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T,Rubio-Gozalbo E, Berger R, de Koning TJ. An update on serine deficiencydisorders. J Inherit Metab Dis. 2013 Jul;36(4):613-9. doi:10.1007/s10545-013-9592-4.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 810
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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