tyrosinemia type III

an extremely rare autosomal recessive disorder caused by homozygous mutation in the HPD gene (locus: 12q24-qter), which encodes 4-hydroxyphenylpyruvate dioxygenase, an enzyme important in tyrosine catabolism. It is characterized by hypertyrosinemia and massive urinary excretion of its derivatives, mild mental retardation, seizures, but absence of liver damage. Cf. hawkinsinuria.

Medical dictionary. 2011.

Look at other dictionaries:

  • Tyrosinemia type II — Classification and external resources Tyrosine ICD 10 E …   Wikipedia

  • Type III tyrosinemia — Infobox Disease Name = PAGENAME Caption = Tyrosine DiseasesDB = 29836 DiseasesDB mult = ICD10 = ICD10|E|70|2|e|70 ICD9 = ICD9|270.2 ICDO = OMIM = 276710 OMIM mult = MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2339 MeshID = D020176 Type III …   Wikipedia

  • Tyrosinemia — Infobox Disease Name = PAGENAME Caption = Tyrosine DiseasesDB = 13478 DiseasesDB mult = DiseasesDB2|13486 DiseasesDB2|29836 ICD10 = ICD10|E|70|2|e|70 ICD9 = ICD9|270.2 ICDO = OMIM = 276700 OMIM mult = OMIM2|276600 OMIM2|276710 MedlinePlus =… …   Wikipedia

  • Tyrosinemia — A genetic metabolic disorder involving the amino acid tyrosine. The enzymatic basis of the disease is deficiency of an enzyme called fumarylacetoacetic hydrolase, the last enzyme in the tyrosine pathway. Tyrosinemia is inherited as an autosomal… …   Medical dictionary

  • Ocular albinism type 1 — Classification and external resources ICD 10 E70.3 OMIM 300500 DiseasesDB …   Wikipedia

  • Glutaric acidemia type 2 — Classification and external resources Glutaric acid ICD 10 E …   Wikipedia

  • 3-Methylglutaconic aciduria — Classification and external resources 3 methylglutaconic acid DiseasesDB …   Wikipedia

  • Fanconi syndrome — Not to be confused with Fanconi anemia. Fanconi syndrome Classification and external resources ICD 10 E72.0 ICD 9 …   Wikipedia

  • Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 …   Wikipedia

  • Hermansky–Pudlak syndrome — Classification and external resources ICD 10 E70.3 (ILDS E70.360) OMIM 203300 …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.