Tyrosinosis and Other Cases of p Hydroxyphenylpyruvic Acid Excretion

Tyrosinosis and Other Cases of p-Hydroxyphenylpyruvic Acid Excretion 

It is fortunate that Medes was available to make such a complete and able investigation, as no further eases of tyrosinosis have been reported and the metabolic defect must therefore be exceedingly rare. (There having been only one case recorded nothing is, of course, known of the genetics of its inheritance). Recently, however, other cases of p-hydroxyphenyl-pyruvic acid excretion have been observed, and though these are probably of a different type it is convenient to consider them here. 

Felix and co-workers developed a specific method for estimating urinary p-hydroxyphenylpyruvate (549) and then investigated the possible use of 

Foiling (272) in 1934 first described a syndrome characterized clinically by mental defect and biochemically by the presence in the urine of phenyl- 

The urine also contains considerable amounts of phenylalanine (180, 274), phenyllactic acid (150, 151), and phenylacetylglutamine (832, 960), typical urinary excretion values being (960), in milligrams per 100 ml., phenylalanine 38, phenylpyruvic acid 50, phenyllactic acid 54, and phenylacetylglutamine 53. Phenylacetylglutamine occurs in normal urine in appreciable quantities (0.25 to 0.5 g. per day), but excretion by the phenylketonuric is much higher (e.g., 2.4 g. per day, ref. 832). 

---