Tyrosyluria

Z2. Zannoni, V. G., and La Du, B. N., Tyrosyluria resulting from inhibition of p-hydroxyphenylpyruvic acid oxidase in vitamin C-deficient guinea pigs. /. Biol. Chem. 236, 2667-2671 (1960). 

Wadman, S.K., Van der Heiden, C., Ketting, D. and Van Sprang, F.J. (1971), Abnormal tyrosine and phenylalanine metabolism in patients with tyrosyluria and phenyketonuria gas-liquid chromatographic analysis of urinary metabolites. Clin. Chim. Acta, 34,277. 

Tyrosyluria 4-Hydroxyphenylpyruvic, 4-hydroxyphenyl-lactic and 4-hydroxyphenylacetic acids Tyrosine Delayed maturation of 4-hydroxy-phenylpyruvic acid oxidase (EC 1.13.11.27) 16.5.2... 

Disorders of L-tyrosine metabolism tyrosinaemia, tyrosinosis, tyrosyluria... 

Tyrosyluria (the excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyl-lactate and 4-hydroxyphenylacetate with hypertyrosinaemia) occurs in some normal newborn babies, particularly premature babies, scurvy (ascorbate or vitamin C deficiency), tyrosinosis (Medes, 1932), hepatic cytosol tyrosine transaminase deficiency (oculo-cutaneous tyrosinaemia) (Kennaway and Buist, 1971), in hereditary tyrosinaemia ( inborn hepatorenal dysfunction with tryosyluria ) (LaDu and Gjessing, 1978) and as a secondary phenomenon to a number of liver diseases, including several inherited metabolic diseases unassociated directly with tyrosine metabolism (for example, propionic acidaemia) or involving disorders of carbohydrate metabolism (for example, galactosaemia and fructosaemia). 

Neonatal tyrosyluria is corrected by one large (50-100 mg) dose of ascorbic acid and may be attributed to delayed maturation of hepatic ascorbate-dependent 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27)... 

The unusual sulphur containing amino acid, hawkinsin , and cis- and transA-hydroxycyclohexylacetic acid observed in an extensively reported patient with transient neonatal tyrosinaemia (Danks et al., 1975 Niederwieser et al., 1977) in whom a defect in 4-hydroxyphenylpyruvate oxidase (see below) had been postulated (Niederwieser et al., 1978) have not been observed in any other patients with tyrosyluria or tyrosinaemia. The origins of these metabolites and their quantitative significance remain questionable, but it is perhaps significant that Bindel et al. (1976) have found 4-hydroxycyclo-hexane-l-carboxylic acid in the urine of several children with suspected metabolic disorders and proposed a dietary source for the metabolite. A bacterial origin also appears possible. 

This was first reported by Buist and his colleagues (Buist et aL, 1969) in a 5-year-old male patient with tyrosinaemia and tyrosyluria who presented with multiple congenital abnormalities and severe mental retardation. The patient did not have any hepatorenal dysfunction and was similar to the original patient... 

Fig. 16.16 Inherited metabolic diseases associated with hepatorenal dysfunction and tyrosyluria and close similarities to hereditary tyrosinaemia type I. (From Chalmers, 1974)...

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