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, renal damage.

TAT: tyrosine aminotransferase; 4-OHPPD: 4-hydroxy phenylpyruvate dioxygenase; HGD: homogentisic acid dioxygenase; MAI: maleylacetoacetate isomerase; FAH: fumarylacetoacetate hydrolase.

Courtesy of Markus Grompe, MD.

Graphic 77852 Version 6.0

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