Type III tyrosinemia

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 tyrosinemia is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC number|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 (intermittent ataxia). Type III tyrosinemia is very rare; only a few cases have been reported.


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