Renal tubular transport of proline, hydroxyproline, and glycine: III. Genetic basis for more than one mode of transport in human kidney

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Abstract

Impaired renal tubular transport of proline, hydroxyproline, and glycine was inherited as an autosomal recessive trait in two Ashkenazi-Jewish pedigrees and one French-Canadian family; the heterozygotes for the trait exhibited hyperglycinuria only. Intestinal transport of imino acids and glycine was not impaired in homozygotes. It is possible that more than one mutant allele may occur at a locus controlling tubular transport of the imino acids and glycine, since one subject with the imino-glycinuric phenotype had one parent who was not hyperglycinuric.

Authors

Charles R. Scriver