" /> Tyrosinemia, type III - CISMeF





Preferred Label : Tyrosinemia, type III;

Symbol : TYRSN3;

CISMeF acronym : TYRSN3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 4-hydroxyphenylpyruvic acid oxidase deficiency; 4-hydroxyphenylpyruvate dioxygenase deficiency;

Description : 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 (Tomoeda et al., 2000). Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD, 609695.0001);

Laboratory abnormalities : 4-hydroxyphenylpyruvic acid dioxygenase deficiency (HPD); Tyrosinemia; 4-hydroxyphenylpyruvic aciduria; 4-hydroxyphenyllactic aciduria; 4-hydroxyphenylacetic aciduria;

Prefixed ID : #276710;

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03/05/2025


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