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Yang, C. Carbamoyl Phosphate Synthetase I Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5158 (accessed on 22 September 2026).
Yang C. Carbamoyl Phosphate Synthetase I Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5158. Accessed September 22, 2026.
Yang, Catherine. "Carbamoyl Phosphate Synthetase I Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5158 (accessed September 22, 2026).
Yang, C. (2020, December 24). Carbamoyl Phosphate Synthetase I Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5158
Yang, Catherine. "Carbamoyl Phosphate Synthetase I Deficiency." Encyclopedia. Web. 24 December, 2020.
Carbamoyl Phosphate Synthetase I Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/carbamoyl-phosphate-synthetase-i-deficiency

Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.

genetic conditions

References

  1. Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. UreaCycle Disorders Overview. 2003 Apr 29 [updated 2017 Jun 22]. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1217/
  2. Aoshima T, Kajita M, Sekido Y, Mimura S, Itakura A, Yasuda I, Saheki T,Watanabe K, Shimokata K, Niwa T. Carbamoyl phosphate synthetase I deficiency:molecular genetic findings and prenatal diagnosis. Prenat Diagn. 2001Aug;21(8):634-7.
  3. Endo F, Matsuura T, Yanagita K, Matsuda I. Clinical manifestations of inbornerrors of the urea cycle and related metabolic disorders during childhood. JNutr. 2004 Jun;134(6 Suppl):1605S-1609S; discussion 1630S-1632S, 1667S-1672S.doi: 10.1093/jn/134.6.1605S. Review.
  4. Finckh U, Kohlschütter A, Schäfer H, Sperhake K, Colombo JP, Gal A. Prenataldiagnosis of carbamoyl phosphate synthetase I deficiency by identification of amissense mutation in CPS1. Hum Mutat. 1998;12(3):206-11.
  5. Häberle J, Schmidt E, Pauli S, Rapp B, Christensen E, Wermuth B, Koch HG. Genestructure of human carbamylphosphate synthetase 1 and novel mutations in patientswith neonatal onset. Hum Mutat. 2003 Apr;21(4):444.
  6. Rapp B, Häberle J, Linnebank M, Wermuth B, Marquardt T, Harms E, Koch HG.Genetic analysis of carbamoylphosphate synthetase I and ornithinetranscarbamylase deficiency using fibroblasts. Eur J Pediatr. 2001May;160(5):283-7.
  7. Wakutani Y, Nakayasu H, Takeshima T, Adachi M, Kawataki M, Kihira K, Sawada H,Bonno M, Yamamoto H, Nakashima K. Mutational analysis of carbamoylphosphatesynthetase I deficiency in three Japanese patients. J Inherit Metab Dis.2004;27(6):787-8.
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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 : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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