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تعداد آیتم قابل مشاهده باقیمانده : -4 مورد

Tyrosine degradation

Tyrosine degradation

(1) Tyrosinemia type II – Corneal ulcers, hyperkeratosis, occasional intellectual disability.

(2) Tyrosinemia type III – Possible intellectual disability.

(3) Alkaptonuria – Ochronosis, black urine.

(4) Maleylacetoacetate isomerase deficiency – Phenotype?

(5) Tyrosinemia type I – Liver failure, kidney damage.

4-OHPPD: 4-hydroxy phenylpyruvate dioxygenase; FAH: fumarylacetoacetate hydrolase; HGD: homogentisic acid dioxygenase; MAI: maleylacetoacetate isomerase; TAT: tyrosine aminotransferase.
Courtesy of Markus Grompe, MD.
Graphic 77852 Version 7.0