Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family.
The mother and daughter in a family had homozygous cystinuria and were also heterozygous carriers of the oculo-cerebro-renal dystrophy of Lowe. The daughter was also epileptic. The son had Lowe's syndrome and the father an increased urinary excretion of cystine and lysine. This evidence together with other case reports suggests that the defect in cystinuria and that of Lowe's syndrome may be connected.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003555:Cystinuria / Q000235:genetics*; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D009520:New Zealand; D000608:Renal Aminoacidurias / Q000235:genetics*; D013577:Syndrome