Tyrosinemia type III

Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27), encoded by the gene HPD.[2] This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination (intermittent ataxia). Type III tyrosinemia is very rare; only a few cases have been reported.[3]

Pathophysiology of metabolic disorders of tyrosine, resulting in elevated levels of tyrosine in blood.
Tyrosinemia type III
Other namesTYRSN3[1]
Tyrosine
SpecialtyEndocrinology 

References
  1. "OMIM Entry - # 276710 - TYROSINEMIA, TYPE III; TYRSN3". omim.org.
  2. Zea-Rey, Alexandra V.; Cruz-Camino, Héctor; Vazquez-Cantu, Diana L.; Gutiérrez-García, Valeria M.; Santos-Guzmán, Jesús; Cantú-Reyna, Consuelo (27 November 2017). "The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population" (PDF). Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230.
  3. Zea-Rey, Alexandra V.; Cruz-Camino, Héctor; Vazquez-Cantu, Diana L.; Gutiérrez-García, Valeria M.; Santos-Guzmán, Jesús; Cantú-Reyna, Consuelo (27 November 2017). "The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population" (PDF). Journal of Inborn Errors of Metabolism and Screening. 5: 232640981774423. doi:10.1177/2326409817744230.
Classification
External resources
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.