Title : Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.

Pub. Date : 2000 Nov

PMID : 11073718






4 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 The enzyme 4-hydroxyphenylpyruvic acid dioxygenase (HPD) catalyzes the reaction of 4-hydroxyphenylpyruvic acid to homogentisic acid in the tyrosine catabolism pathway. Tyrosine 4-hydroxyphenylpyruvate dioxygenase Homo sapiens
2 The enzyme 4-hydroxyphenylpyruvic acid dioxygenase (HPD) catalyzes the reaction of 4-hydroxyphenylpyruvic acid to homogentisic acid in the tyrosine catabolism pathway. Tyrosine 4-hydroxyphenylpyruvate dioxygenase Homo sapiens
3 A deficiency in the catalytic activity of HPD may lead to tyrosinemia type III, an autosomal recessive disorder characterized by elevated levels of blood tyrosine and massive excretion of tyrosine derivatives into urine. Tyrosine 4-hydroxyphenylpyruvate dioxygenase Homo sapiens
4 A deficiency in the catalytic activity of HPD may lead to tyrosinemia type III, an autosomal recessive disorder characterized by elevated levels of blood tyrosine and massive excretion of tyrosine derivatives into urine. Tyrosine 4-hydroxyphenylpyruvate dioxygenase Homo sapiens