Medicine:Tyrosinemia type III
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| Tyrosinemia type III | |
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| Other names | TYRSN3[1] |
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| Tyrosine | |
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.[2]
References
- ↑ "OMIM Entry - # 276710 - TYROSINEMIA, TYPE III; TYRSN3". https://omim.org/entry/276710.
- ↑ 2.0 2.1 "The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population". Journal of Inborn Errors of Metabolism and Screening 5: 232640981774423. 27 November 2017. doi:10.1177/2326409817744230. http://www.scielo.br/pdf/jiems/v5/2326-4594-jiems-5-e170016.pdf.
External links
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