Hepatorenal tyrosinemia

Tyrosine derives from the breakdown of dietary or tissue proteins or through the hydroxylation of the essential amino acid phenylalanine. Hepatorenal tyrosinemia (tyrosinemia type I, TYR-I) is an autosomal recessive disease caused by a deficiency of the enzyme fumarylacetoacetase (Figure 55-7),... 

Cytosolic tyrosine aminotransferase (EC 2.6.1A). Elevated tyrosine in blood and cerebrospinal fluid. Increased urinary tyrosine, 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenyiaeetate. Slight to moderate mental retar tion. Blistering and hyperkeratosis of palms and soles of feet. Photophobia. No hepatorenal dysfunction (cf. Hereditary tyrosinemia type I). Controlled with diet low in phenylalanine and tyrosine. 

Hereditary tyrosinemia type I, or Tyrosinosis, or Hereditary hepatorenal dysfunction (see Fig. 2). 

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