Abstract
A 7-month old girl with the acute type of hereditary tyrosinemia excreted in addition to the traditional tyrosine metabolites also considerable quantities of succinylacetone in the urine. She has succesfully been treated with a low tyrosine/low phenylalanine diet supplying 1.14 g/kg/day of protein. The concentrations of plasma amino acids, intra-erythrocytic glutathione, free amino acids and urinary organic acids have been followed during therapy. A low plasma cystine and erythrocytic glutathione indicated the need for supplementary cysteine which was given in a dose of 90 mg/kg/day. This increased the glutathione concentration, although plasma cystine remained low. During this study the physical growth was normal. A test intake of 750 mg L-cysteine was followed by a 10-fold increase in the plasma concentration of cystine within 105 minutes. Glutathione increased from 0.59 to 1.44 determined as μmol/g erythrocytes. Our findings indicate an insufficient cysteine level in hereditary tyrosinemia. A decreased synthesis from methionine and/or an increased removal of SH-compounds by fixation to toxic metabolites are possible explanations.
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Slørdahl, S., Lie, S., Jellum, E. et al. Increased need for L-cysteine in hereditary tyrosinemia. Pediatr Res 13, 74 (1979). https://doi.org/10.1203/00006450-197901000-00027
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DOI: https://doi.org/10.1203/00006450-197901000-00027
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