Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia

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 l...

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Published inClinica chimica acta Vol. 114; no. 1; pp. 37 - 44
Main Authors Berger, R., Smit, O.P.A., Vries, S.A.Stoker-de, Duran, M., Ketting, D., Wadman, S.K.
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 18.07.1981
Subjects
Acetoacetates - deficiency
Amino Acid Metabolism, Inborn Errors - enzymology
Fumarates - deficiency
Heptanoates - urine
Humans
Hydrolases - deficiency
Infant
Keto Acids - urine
Liver - enzymology
Male
Tyrosine - blood
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ISSN:0009-8981
1873-3492
DOI:10.1016/0009-8981(81)90225-4