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

Molecular Genetics and Metabolism

Volumn 71, Issue 3, 2000, Pages 506-510

  Tomoeda, Kaede ^a   Awata, Hisataka ^a   Matsuura, Toshinobu ^b   Matsuda, Ichiro ^a   Ploechl, Engelbert ^c   Milovac, Tom ^d   Boneh, Avihu ^d   Scott, C Ronald ^e   Danks, David M ^d   Endo, Fumio ^a  

^a KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF THE RYUKYUS   (Japan)

^c Salzburger Landeskliniken   (Austria)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e UNIVERSITY OF WASHINGTON   (United States)

Author keywords

4 hydroxyphenylpyruvic acid dioxygenase (HPD) gene; Hawkinsinuria; Mutation; Tyrosine catabolism; Tyrosinemia type III

Indexed keywords

4 HYDROXYPHENYLPYRUVATE DIOXYGENASE;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE SEQUENCE; HUMAN; INFANT; MALE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; TYROSINEMIA;

EID: 0033730443     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3085     Document Type: Article

References (15)

1. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
2. Primary structure deduced from complementary DNA sequence and expression in cultured cells of mammalian 4-hydroxyphenylpyruvic acid dioxygenase. Evidence for that the enzyme is a homodimer of identical subunits homologous to rat liver-specific alloantigen F
3. Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD)
4. Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD)
5. Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: A new variant form of hereditary hypertyrosinemia
6. Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement
7. A new form of prolonged transient tyrosinemia presenting with severe metabolic acidosis
8. Hawkinsinuria: A dominantly inherited defect of tyrosine metabolism with severe effects in infancy
9. A new sulfur amino acid, named Hawkinsin, identified in a baby with transient tyrosinemia and her mother
10. A nonsense mutation in the 4-hydroxyphenylpyruvic acid gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III
11. Excretion of cisand trans-4-hydroxycyclohexylacetic acid in addition to hawkinsin in a family with a postulated defect of 4-hydroxyphenylpyruvate dioxygenase
12. Hawkinsinuria in two families
13. New tyrosine metabolites in humans, hawkinsin and cis- and trans-4-hydroxycyclohexylacetic acids: Unusual adsorption of deuterated and non-deuterated hawkinsin during gas chromatography
14. The perinatal development of epoxide-metabolizing enzyme activities in liver and extrahepatic organs of guinea pig and rabbit
15. The postnatal development of microsomal expoxide hydrase, cytosolic glutathione S-transferase, and mitochondrial and microsomal cytochrome P-450 in adrenals and ovaries of female rats