Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia.

摘要: Enzymatic studies on the liver of an infant are described-a case hypertyrosinemia without hepatic dysfunction. His parents were siblings and mother had hypertyrosinemia. Excessive amounts 4-hydroxyphenylpyruvic acid (pHPP), 4-hydroxyphenylacetic (pHPL), (pHPA) found to be excreted in patient's urine as well inhibitor porphobilinogen synthetase was not found. Soluble tyrosine aminotransferase (s-TAT), separated from that mitochondrial form (m-TAT) by DE 52 column chromatography, normal liver, both quantitatively qualitatively. The activities fumarylacetoacetase peripheral leucocytes normal. activity pHPP oxidase approximately 5% control enzyme a high Km value for (controls: 0.06 +/- 0.01 mM, patient: 0.23 0.03 mM). From these results, patient thought different previously described types tyrosinemia perhaps representative new variant form. This is first report concerning deficiency alone. Mild metal retardation mild may offered typical clinical features disease.