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1982•Journal of Inherited Metabolic DiseaseRequires access

Hepatic tyrosine aminotransferase in tyrosinaemia type II

Kaichi Kida, Motoko Takahashi, Yoshiki Fujisawa, H. Matsuda, Hiroshi Machino, Yukio Miki

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Abstract

Abstract Tyrosinaemia type II (Richner‐Hanhart's syndrome), first reported by Wadmanet al. (1968), is characterized by a highly elevated level of tyrosine in blood and corneal ulcer, dermal hyperkeratosis and mental retardation. Fellmanet al. (1969) showed that this disease was caused by the defect of the cytosolic tyrosine aminotransferase of the liver. We now report a case of this disease with enzymological studies of the biopsied liver.

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Abstract Tyrosinaemia type II (Richner‐Hanhart's syndrome), first reported by Wadmanet al. (1968), is characterized by a highly elevated level of tyrosine in blood and corneal ulcer, dermal hyperkeratosis and mental retardation. Fellmanet al. (1969) showed that this disease was caused by the defect of the cytosolic tyrosine aminotransferase of the liver. We now report a case of this disease with enzymological studies of the biopsied liver.

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Available abstract

Abstract Tyrosinaemia type II (Richner‐Hanhart's syndrome), first reported by Wadmanet al. (1968), is characterized by a highly elevated level of tyrosine in blood and corneal ulcer, dermal hyperkeratosis and mental retardation. Fellmanet al. (1969) showed that this disease was caused by the defect of the cytosolic tyrosine aminotransferase of the liver. We now report a case of this disease with enzymological studies of the biopsied liver.

Key concepts: Tyrosinemia, Tyrosine aminotransferase, Tyrosine, Liver disease, Internal medicine, Hyperkeratosis, Cytosol, Medicine

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