Dietary Treatment of Tyrosinosis
- 1 January 1967
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Pediatrics & Adolescent Medicine
- Vol. 113 (1) , 38-40
- https://doi.org/10.1001/archpedi.1967.02090160088007
Abstract
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 ofp-hydroxyphenylpyruvic acid (pHPPA),p-hydroxyphenylacetic acid (pHPAA), andp-hydroxyphenyllactic acid (pHPLA). These metabolic products point to a block of the pHPPA-oxidase. In liver specimens from patients with tyrosinosis Sakai and Kitagawa,1Gentz et al,2and Taniguchi and Gjessing3found no activity of this enzyme. Whether this block is due to a genetically determined lack of this enzyme;2multiple enzymatic defects which include this enzyme; or3a secondary inhibition of the enzyme due to some other hereditary metabolic defect is unknown. The term tyrosinosis, first used by Medes,4is used to describe the condition. Unfortunately we do not have much data which are notKeywords
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