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Xu, C. Hyperprolinemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4144 (accessed on 27 September 2026).
Xu C. Hyperprolinemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4144. Accessed September 27, 2026.
Xu, Camila. "Hyperprolinemia" Encyclopedia, https://encyclopedia.pub/entry/4144 (accessed September 27, 2026).
Xu, C. (2020, December 23). Hyperprolinemia. In Encyclopedia. https://encyclopedia.pub/entry/4144
Xu, Camila. "Hyperprolinemia." Encyclopedia. Web. 23 December, 2020.
Hyperprolinemia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hyperprolinemia

Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II.

genetic conditions

References

  1. Campbell HD, Webb GC, Young IG. A human homologue of the Drosophilamelanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is acandidate gene for type-I hyperprolinaemia. Hum Genet. 1997 Nov;101(1):69-74.
  2. Geraghty MT, Vaughn D, Nicholson AJ, Lin WW, Jimenez-Sanchez G, Obie C, Flynn MP, Valle D, Hu CA. Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenasegene cause type II hyperprolinemia. Hum Mol Genet. 1998 Sep;7(9):1411-5.
  3. Humbertclaude V, Rivier F, Roubertie A, Echenne B, Bellet H, Vallat C, MorinD. Is hyperprolinemia type I actually a benign trait? Report of a case withsevere neurologic involvement and vigabatrin intolerance. J Child Neurol. 2001Aug;16(8):622-3.
  4. Jacquet H, Berthelot J, Bonnemains C, Simard G, Saugier-Veber P, Raux G,Campion D, Bonneau D, Frebourg T. The severe form of type I hyperprolinaemiaresults from homozygous inactivation of the PRODH gene. J Med Genet. 2003Jan;40(1):e7.
  5. Shivananda, Christopher R, Kumar P. Type I hyperprolinemia. Indian J Pediatr. 2000 Jul;67(7):541-3.
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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 : Camila Xu
View Times: 856
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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