GTR Home > Conditions/Phenotypes > 4-Hydroxyphenylpyruvate dioxygenase deficiency

Summary

Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000). [from OMIM]

Available tests

30 tests are in the database for this condition.

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  • Also known as: 4-HPPD, 4HPPD, GLOD3, HPPDASE, PPD, HPD
    Summary: 4-hydroxyphenylpyruvate dioxygenase

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