TYROSINOSIS is a hereditary disorder characterized by cirrhosis, severe hypophosphatemic rickets, renal tubular defects, and derangement in tyrosine metabolism, now a well-established clinical entity. The main metabolic features of this disorder are elevated serum tyrosine and increased excretion of p-hydroxyphenylpyruvic acid (pHPPA), p-hydroxyphenylacetic acid (pHPAA), and p-hydroxyphenyllactic acid (pHPLA). These metabolic products point to a block of the pHPPA-oxidase. In liver specimens from patients with tyrosinosis Sakai and Kitagawa,1 Gentz et al,2 and Taniguchi and Gjessing3 found no activity of this enzyme. Whether this block is due to a genetically determined lack of this enzyme;2 multiple enzymatic defects which include this enzyme; or3 a secondary inhibition of the enzyme due to some other hereditary metabolic defect is unknown. The term tyrosinosis, first used by Medes,4 is used to describe the condition.
Unfortunately we do not have much data which are not
HALVORSEN S. Dietary Treatment of Tyrosinosis. Am J Dis Child. 1967;113(1):38-40. doi:10.1001/archpedi.1967.02090160088007