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- Hawkinsinuria abstract "Hawkinsinuria, also called 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, is an autosomal dominant metabolic disorder affecting the metabolism of tyrosine. Normally, the breakdown of the amino acid tyrosine involves the conversion of 4-hydroxyphenylpyruvate to homogentisate by 4-Hydroxyphenylpyruvate dioxygenase. Complete deficiency of this enzyme would lead to tyrosinemia III. In rare cases, however, the enzyme is still able to produce the reactive intermediate 1,2-epoxyphenyl acetic acid, but is unable to convert this intermediate to homogentisate. The intermediate then spontaneously reacts with glutathione to form 2-L-cystein-S-yl-1,4-dihydroxy-cyclohex-5-en-1-yl acetic acid (hawkinsin).Patients present with metabolic acidosis during the first year of life, which should be treated by a phenylalanine- and tyrosine-restricted diet. The tolerance toward these amino acids normalizes as the patients get older. Then only a chlorine-like smell of the urine indicates the presence of the condition, patients have a normal life and do not require treatment or a special diet.The production of hawkinsin is the result of a gain-of-function mutation, inheritance of hawkinsinuria is therefore autosomal dominant (presence of a single mutated copy of the gene causes the condition). Most other inborn errors of metabolism are caused by loss-of-function mutations, and hence have recessive inheritance (condition occurs only if both copies are mutated).".
- Hawkinsinuria thumbnail Hawkinsin.png?width=300.
- Hawkinsinuria wikiPageID "4423347".
- Hawkinsinuria wikiPageLength "2675".
- Hawkinsinuria wikiPageOutDegree "12".
- Hawkinsinuria wikiPageRevisionID "559023737".
- Hawkinsinuria wikiPageWikiLink 4-Hydroxyphenylpyruvate_dioxygenase.
- Hawkinsinuria wikiPageWikiLink Category:Amino_acid_metabolism_disorders.
- Hawkinsinuria wikiPageWikiLink Category:Autosomal_dominant_disorders.
- Hawkinsinuria wikiPageWikiLink Dominance_(genetics).
- Hawkinsinuria wikiPageWikiLink Hawkinsin.
- Hawkinsinuria wikiPageWikiLink Homogentisic_acid.
- Hawkinsinuria wikiPageWikiLink Inborn_error_of_metabolism.
- Hawkinsinuria wikiPageWikiLink Metabolic_acidosis.
- Hawkinsinuria wikiPageWikiLink Tyrosine.
- Hawkinsinuria wikiPageWikiLink Tyrosinemia_type_III.
- Hawkinsinuria wikiPageWikiLink File:Autosomal_dominant_-_en.svg.
- Hawkinsinuria wikiPageWikiLinkText "Hawkinsinuria".
- Hawkinsinuria wikiPageWikiLinkText "hawkinsinuria".
- Hawkinsinuria caption Hawkinsin.
- Hawkinsinuria diseasesdb "29836".
- Hawkinsinuria icd "E72.1".
- Hawkinsinuria meshid "D020176".
- Hawkinsinuria name "Hawkinsinuria".
- Hawkinsinuria omim "140350".
- Hawkinsinuria wikiPageUsesTemplate Template:Amino_acid_metabolic_pathology.
- Hawkinsinuria wikiPageUsesTemplate Template:Genetic-disorder-stub.
- Hawkinsinuria wikiPageUsesTemplate Template:Infobox_Disease.
- Hawkinsinuria wikiPageUsesTemplate Template:Refimprove.
- Hawkinsinuria wikiPageUsesTemplate Template:Reflist.
- Hawkinsinuria subject Category:Amino_acid_metabolism_disorders.
- Hawkinsinuria subject Category:Autosomal_dominant_disorders.
- Hawkinsinuria hypernym Disorder.
- Hawkinsinuria type Disease.
- Hawkinsinuria type Disorder.
- Hawkinsinuria type Error.
- Hawkinsinuria comment "Hawkinsinuria, also called 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, is an autosomal dominant metabolic disorder affecting the metabolism of tyrosine. Normally, the breakdown of the amino acid tyrosine involves the conversion of 4-hydroxyphenylpyruvate to homogentisate by 4-Hydroxyphenylpyruvate dioxygenase. Complete deficiency of this enzyme would lead to tyrosinemia III.".
- Hawkinsinuria label "Hawkinsinuria".
- Hawkinsinuria sameAs Q5685180.
- Hawkinsinuria sameAs هاوکینسینوری.
- Hawkinsinuria sameAs m.047t0dv.
- Hawkinsinuria sameAs Q5685180.
- Hawkinsinuria wasDerivedFrom Hawkinsinuria?oldid=559023737.
- Hawkinsinuria depiction Hawkinsin.png.
- Hawkinsinuria isPrimaryTopicOf Hawkinsinuria.