Type II tyrosinemia

Type II tyrosinemia

Infobox_Disease
Name = PAGENAME



Caption = Tyrosine
DiseasesDB = 13486
DiseasesDB_mult =
ICD10 = ICD10|E|70|2|e|70
ICD9 = ICD9|270.2
ICDO =
OMIM = 276600
OMIM_mult =
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 2339
MeshID = D020176

Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (EC number|2.6.1.5), encoded by the gene "TAT". Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy. This form of the disorder can affect the eyes, skin, and mental development. Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally retarded. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.


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