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- n. A rare autosomal-recessive disorder of renal tubular transport affecting reabsorption of the amino acid glycine and the imino acids proline and hydroxyproline, resulting in excess urinary excretion of all three acids.
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The researchers looked at two disorders of kidney function - iminoglycinuria and hyperglycinuria.
John Rasko and colleagues, at the Centenary Institute, Australia, have provided new insight into the genes that are mutated in individuals with two related kidney defects: iminoglycinuria (IG), which occurs when individuals cannot efficiently reabsorp the protein building blocks glycine, proline, and hydroxyproline, so they are excreted at high levels in the urine; and hyperglycinuria without iminoaciduria (HG), which occurs when individuals cannot efficiently reabsorp glycine, so it is excreted at high levels in the urine.