Ontogeny of Amino Acid Reabsorption in Human Kidney. Evidence from the Homozygous Infant with Familial Renal Iminoglycinuria for Multiple Proline and Glycine Systems

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Abstract

Summary

Seven infants (two French Canadian, four Ashkenazi Jewish, and one Greek) with massive selective hyperiminoglycinuria (proline, hydroxyproline, and glycine) were detected by urine screening in the second week of life. Follow-up investigations and family studies revealed that each subject had a benign condition, familial renal iminoglycinuria, an autosomal recessive condition.

Speculation

Ontogeny and Mendelian mutation observed together are useful probes of transport processes in epithelial structures. Deviant postnatal net reabsorption for proline and glycine is likely to reflect deviant and specific brush border membrane carrier activity toward these amino acids.

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