About: Hawkinsinuria

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An Entity of Type : umbel-rc:AilmentCondition, within Data Space : dbpedia.org associated with source document(s)
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Hawkinsinuria 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).

Attributes	Values
rdf:type	Thing Disease yago:WikicatAminoAcidMetabolismDisorders yago:WikicatAutosomalDominantDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720 umbel-rc:AilmentCondition
rdfs:label	Hawkinsinuria (en)
rdfs:comment	Hawkinsinuria 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). (en)
foaf:name	Hawkinsinuria (en)
name	Hawkinsinuria (en)
foaf:depiction
dcterms:subject	Amino acid metabolism disorders Autosomal dominant disorders
Wikipage page ID	4423347 (xsd:integer)
Wikipage revision ID	1084539117 (xsd:integer)
Link from a Wikipage to another Wikipage	Autosomal dominant Tyrosine 4-Hydroxyphenylpyruvate dioxygenase Amino acid metabolism disorders Hawkinsin Autosomal dominant disorders Metabolic disorder Metabolic acidosis Homogentisate Tyrosinemia III
sameAs	Hawkinsinuria Hawkinsinuria Hawkinsinuria Hawkinsinuria Hawkinsinuria
dbp:wikiPageUsesTemplate	dbt:Genetic-disorder-stub dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Amino_acid_metabolic_pathology
thumbnail	wiki-commons:Special:FilePath/Hawkinsin.png?width=300
DiseasesDB	29836 (xsd:integer)
ICD	(en) E72.1 (en)
MeshID	D020176 (en)
OMIM	140350 (xsd:integer)
caption	Hawkinsin
synonyms	4 (xsd:integer)
has abstract	Hawkinsinuria 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, and growth arrest around the time of weaning off breast milk. Treatment involves a diet containing a low amount of phenylalanine and tyrosine. 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). The gene affected is the HPD gene encoding 4-hydroxyphenylpyruvic acid dioxygenase, on chromosome 12q24. It is unusual in that 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). (en)
gold:hypernym	Disorder
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
MeSH ID	D020176
prov:wasDerivedFrom	wikipedia-en:Hawkinsinuria?oldid=1084539117&ns=0
page length (characters) of wiki page	4173 (xsd:nonNegativeInteger)
DiseasesDB	29836
ICD10	E72.1
OMIM id	140350 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:Hawkinsinuria
is Link from a Wikipage to another Wikipage of	Quinolacetic acid 4-Hydroxyphenylpyruvate dioxygenase List of OMIM disorder codes Hawkinsin 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency 4 alpha hydroxyphenylpyruvate hydroxylase deficiency
is Wikipage redirect of	4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency 4 alpha hydroxyphenylpyruvate hydroxylase deficiency
is foaf:primaryTopic of	wikipedia-en:Hawkinsinuria

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