CONGENITAL RENAL DYSPLASIA, RETINAL DYSPLASIA AND MENTAL RETARDATION ASSOCIATED WITH HYPERPROLINURIA AND HYPER‐OH‐PROLINURIA

Abstract

Summary A case is described with prolinuria and OH‐prolinuria associated with congenital renal dysplasia, retinal dysplasia and mental retardation. The mental disturbance showed a peculiar picture of autism . Consanguinity supports the assumption that the disease is caused by a recessive gene. There was an accumulation of nervous diseases in the family. This raises the question whether one recessive gene may condition the individual for psychiatric diseases.