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PubMed · 463558

Tyrosinemia.

Y Shinohara·R Hasegawa·N Ito·M Kanayama·T Kato·Y Wada
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Abstract

A case of tyrosinemia in a three-month-old boy is presented. The patient appeared jaundiced initially with markedly elevated levels of serum tyrosine and a positive Millon-reacting urine. Jaundice persisted and hepatosplenomegaly gradually increased. He died due to liver failure on the 51st day after admission. At autopsy, the liver showed the features of severe giant cell hepatitis including giant cell formation, fibrosis and bile retention. The pancreas and the brain showed characteristic postmortem findings as previously reported in patients with tyrosinemia.

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Amino Acid Metabolism, Inborn ErrorsHumansInfantLiverMalePancreasTyrosineCase ReportsJournal Article

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BibTeXRIS

Y Shinohara, R Hasegawa, N Ito, M Kanayama, T Kato, Y Wada. 1979. Tyrosinemia.. https://doi.org/10.1111/j.1440-1827.1979.tb00929.x

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[Biochemical, clinical and genetic analysis of various aminoacidopathies (non-ketotic hyperglycemia, maple syrup urine disease, histidinemia, tyrosinemia)].

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Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities.

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