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  • Title: Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.
    Author: Berger R, Smit GP, Stoker-de Vries SA, Duran M, Ketting D, Wadman SK.
    Journal: Clin Chim Acta; 1981 Jul 18; 114(1):37-44. PubMed ID: 7249373.
    Abstract:
    A patient is described with type I tyrosinemia characterized by urinary excretion of succinylacetone together with increased excretion of tyrosine, p-hydroxyphenyllactic, p-hydroxyphenylpyruvic and p-hydroxyphenylacetic acids. Fumarylacetoacetase was measured in a liver biopsy and found to be very low compared to control liver. Furthermore the mass spectra of succinylacetone and fumarylacetoacetate (methoxime-TMS derivatives) are reported. Control jejunal mucosa, leucocytes and fibroblasts showed no enzyme activity; hence the prenatal diagnosis of this disease by measuring the fumarylacetoacetase activity in cultured amniotic fluid cells is not possible at present.
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