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KMID : 0378019880310070087
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New Medical Journal
1988 Volume.31 No. 7 p.87 ~ p.92
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The Case Report of Histidinemia
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Abstract
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Histidinemia is one type of inborn error of metabolism that is caused by deficiency of the enzyme, histidase, which is necessary in turning histidine into urocanic acid. As a result, histidine and immidazole derivatives are accumulated in the body. Their accumulation in brain tissue causes brain damage with the result of delayed development, speech: problem, and mental retardation.
Our seven cases with histidinemia were diagnosed by serological and urinary amino acid assay. This
report is a presentation of the problems in diagnosis and management of this hereditary metabolic disease, histidinemia observed in a limited laboratory context.
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KEYWORD
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