About: Tyrosinemia type III     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:State100024720, within Data Space : dbpedia.org associated with source document(s)
QRcode icon
http://dbpedia.org/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FTyrosinemia_type_III&graph=http%3A%2F%2Fdbpedia.org&graph=http%3A%2F%2Fdbpedia.org

Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27), encoded by the gene HPD. This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination. Type III tyrosinemia is very rare; only a few cases have been reported.

AttributesValues
rdf:type
rdfs:label
  • Tirosinemia tipo 3 (es)
  • Tyrosinemia type III (en)
rdfs:comment
  • La tirosinemia tipo 3 es una rara enfermedadad causada por el déficit de la enzima , codificada por el gen HPD. Esta enzima es abundante en el hígado, además de encontrarse en pequeñas cantidades a nivel renal.​ Es una de las enzimas encargadas del metabolismo de la tirosina. Específicamente, la 4-hidroxifenilpiruvato dioxigenasa convierte al subproducto de la tirosina llamado 4-hidroxifenilpiruvato a ácido homogentísico. Dentro de las características típicas de la tirosinemia tipo 3, se incluye el retardo mental, convulsiones y pérdida periódica del equilibrio y la coordinación (ataxia intermitente). La tirosinemia tipo 3 es muy rara, existiendo sólo unos cuantos casos reportados a nivel mundial (alrededor de 20), siendo además, la tirosinemia de menor prevalencia.​ (es)
  • Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27), encoded by the gene HPD. This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination. Type III tyrosinemia is very rare; only a few cases have been reported. (en)
foaf:name
  • Tyrosinemia type III (en)
name
  • Tyrosinemia type III (en)
foaf:depiction
  • http://commons.wikimedia.org/wiki/Special:FilePath/Inborn_errors_of_metabolism_of_phenylalanine_and_tyrosine.svg
  • http://commons.wikimedia.org/wiki/Special:FilePath/L-tyrosine-skeletal.png
dcterms:subject
Wikipage page ID
Wikipage revision ID
Link from a Wikipage to another Wikipage
sameAs
dbp:wikiPageUsesTemplate
thumbnail
DiseasesDB
ICD
MeshID
  • D020176 (en)
OMIM
caption
image size
synonyms
  • TYRSN3 (en)
has abstract
  • La tirosinemia tipo 3 es una rara enfermedadad causada por el déficit de la enzima , codificada por el gen HPD. Esta enzima es abundante en el hígado, además de encontrarse en pequeñas cantidades a nivel renal.​ Es una de las enzimas encargadas del metabolismo de la tirosina. Específicamente, la 4-hidroxifenilpiruvato dioxigenasa convierte al subproducto de la tirosina llamado 4-hidroxifenilpiruvato a ácido homogentísico. Dentro de las características típicas de la tirosinemia tipo 3, se incluye el retardo mental, convulsiones y pérdida periódica del equilibrio y la coordinación (ataxia intermitente). La tirosinemia tipo 3 es muy rara, existiendo sólo unos cuantos casos reportados a nivel mundial (alrededor de 20), siendo además, la tirosinemia de menor prevalencia.​ (es)
  • Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27), encoded by the gene HPD. This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination. Type III tyrosinemia is very rare; only a few cases have been reported. (en)
eMedicineSubj
  • ped (en)
eMedicineTopic
gold:hypernym
dbp:wordnet_type
ICD9
  • 270.2
eMedicine subject
  • ped (en)
eMedicine topic
  • 2339 (en)
MeSH ID
  • D020176
prov:wasDerivedFrom
page length (characters) of wiki page
DiseasesDB
  • 29836
ICD10
  • E70.2
OMIM id
foaf:isPrimaryTopicOf
is Link from a Wikipage to another Wikipage of
is Wikipage redirect of
is foaf:primaryTopic of
Faceted Search & Find service v1.17_git139 as of Feb 29 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 08.03.3331 as of Sep 2 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (62 GB total memory, 39 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software