Abstract
In this work clinical and biochemical findings are presented in three untreated children with phenylketonuria in a family. Their clinical pictures were not typical for classical phenylke-tonuria. As a result, diagnosis was missed. It has been shown that patterns of large neutral amino acids in serum and urine were somewhat different. Significantly lower serum TRP/LNAA ratio was observed in all patients with phenylketonuria, compared to the control group. These findings suggest that there was subnormal tryptophan availability in the central nervous system leading to its decreased metabolism through the serotonin and kynurenine pathways. These results may explain decreased children’s growth and their mental deficiency.
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Milovanović, D.D., Milovanović, L., Vranješević’, D. (1999). Serum Tryptophan to Large Neutral Amino Acid Ratio and Urinary Tryptophan in Three Patients with Phenylketonuria in a Family. In: Huether, G., Kochen, W., Simat, T.J., Steinhart, H. (eds) Tryptophan, Serotonin, and Melatonin. Advances in Experimental Medicine and Biology, vol 467. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-4709-9_37
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DOI: https://doi.org/10.1007/978-1-4615-4709-9_37
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