Abstract
A child with hereditary tyrosinemia who was also heterozygous for hyperphenylalaninemiais described. The patient had an extensive renal tubular dysfunction and an increased urinary excretion of σ-aminolevulinic acid and catecholamines. A moderate restriction of the tyrosine and phenylalanine intake caused a rapid improvement of the renal tubular function and reduced the excretion of σ-aminolevulinic acid and catecholamines. The disappearance rate of phenylalanine from plasma was normal; during dietary treatment the plasma phenylalanine concentration was much below the normal range. The enzyme activity of p-hydroxyphenylpyruvate hydroxylase (E.C. 1.14.2.2) in liver was decreased.
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