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Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.

Journal article
Authors Ulla Rüetschi
R Cerone
C Pérez-Cerda
M C Schiaffino
S Standing
M Ugarte
Elisabeth Holme
Published in Human genetics
Volume 106
Issue 6
Pages 654-62
ISSN 0340-6717
Publication year 2000
Published at Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine
Pages 654-62
Language en
Keywords 4-Hydroxyphenylpyruvate Dioxygenase, genetics, metabolism, Adolescent, Amino Acid Substitution, Binding Sites, genetics, Child, DNA Mutational Analysis, Exons, Female, Homozygote, Humans, Infant, Introns, Kidney, enzymology, Liver, enzymology, Male, Mutation, Missense, genetics, Polymerase Chain Reaction, Restriction Mapping, Sequence Analysis, DNA, Sequence Homology, Amino Acid, Tyrosine, blood, Tyrosinemias, blood, diagnosis, enzymology, genetics
Subject categories Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy)


Tyrosinemia type III (OMIM 276710) is an autosomal recessive disorder caused by the deficiency of 4-hydroxyphenylpyruvate dioxygenase (HPD), the second enzyme in the tyrosine catabolic pathway. The enzyme deficiency results in an accumulation and increased excretion of tyrosine and phenolic metabolites. Only a few cases with the disorder have been described, and the clinical spectrum of the disorder is unknown. Reported patients have presented with mental retardation or neurological symptoms or have been picked up by neonatal screening. We have identified four presumed pathogenic mutations (two missense and two nonsense mutations) in the HPD gene in three unrelated families encompassing four homozygous individuals and one compound heterozygous individual with tyrosinemia type III. Furthermore, a number of polymorphic mutations have been identified in the HPD gene. No correlation of the severity of the mutation and enzyme deficiency and mental function has been found; neither do the recorded tyrosine levels correlate with the clinical phenotype.

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