Abstract
Summary1.The average renal clearance of phenylalanine in the Phenylketonurie child stands at a normal value : 0,84 ml/min/1,73 m2 of body surface. As in the normal subject the renal tubules of the phenylpyruvic idiot reabsorb most of the phenylalanine filtered at the glomeruli, though the glomerular filtrate is from 10 to 20 times richer in phenylalanine than the normal one.2.Upon 46 individuals taken among 3 affected families, the detection of the carrier state for phenylketonuria was carried out by means of the determination of the fasting phenylalanine plasma level. Good results were obtained in about 70 % of the cases. Other uncertain genotypes can however be ascertained with better accuracy by the oral load test with 1-phenylalanine; this was applied in a case of genetic advice.
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