Phenylketonuria in a patient with cystinuria.
During routine screening procedures for amino-acid disorders by thin-layer chromatography, a 16-year-old boy was found to have phenylketonuria and cystinuria. A phenylalanine and a cystine loading were carried out. The patient was found to be homozygous for phenylketonuria and heterozygous for cystinuria type II. His father was heterozygous for phenylketonuria and cystinuria, while his mother proved to be heterozygous only for phenylketonuria.
D000293:Adolescent; D000596:Amino Acids / Q000032:analysis; D003553:Cystine; D003555:Cystinuria / Q000150:complications* / Q000235:genetics; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010649:Phenylalanine; D010661:Phenylketonurias / Q000150:complications* / Q000235:genetics
D000596:Amino Acids; D010649:Phenylalanine; D003553:Cystine