Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family.

Oculo-cerebro-renal syndrome. Report of a case in a baby girl.

The oculo-cerebro-renal syndrome of Lowe is characterized by failure to thrive, mental retardation, hypotonia, cataracts, glaucoma, amino-aciduria, and decreased renal ammonia formation (Lowe, Terrey, and MacLachlan, I952). A single report of a female with these findings exists in the literature (Svorc, Masopust, Komarkova, Macek, and Hya.nek, I967). In all other characteristic cases, the genet...

Childhood cystinuria in New South Wales

Homozygous cystinuria was diagnosed in 45 children and 19 of their siblings in the course of routine urine screening of 6-week-old infants in New South Wales. These children were followed for up to 14 years. During this time there were 5 clinical episodes of renal disease which could be ascribed to cystinuria. There was normal mental development in all the children except one. Of 49 children ov...

[Lowe's oculo-cerebro-renal syndrome].

Report of a case in a baby girl

The oculo-cerebro-renal syndrome of Lowe is characterized by failure to thrive, mental retardation, hypotonia, cataracts, glaucoma, amino-aciduria, and decreased renal ammonia formation (Lowe, Terrey, and MacLachlan, I952). A single report of a female with these findings exists in the literature (Svorc, Masopust, Komarkova, Macek, and Hya.nek, I967). In all other characteristic cases, the genet...

Lysine infusion in cystinuria: theoretical renal thresholds for lysine.

1. The renal handling of lysine was studied during the intravenous infusion of a lysine load given in such a way that the plasma lysine concentration was constantly increasing. Theoretical renal thresholds, and maximum rates of renal tubular reabsorption of lysine, have been determined in three normal adults, five homozygous cystinuric patients, and three persons, two ‘completely’ and the third...