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A benign inborn error of amino acid transport in renal tubule and intestine; glycine, proline, and hydroxyproline are excreted in the urine; probably autosomal recessive inheritance; genetic heterogeneity is suggested.
iminoglycinuria/im·i·no·gly·cin·uria/ (ĭ-me″no-gli″sin-ūr´e-ah) a benign hereditary disorder of renal tubular reabsorption of glycine and the imino acids proline and hydroxyproline, with an excess of all three in urine.
A benign inborn error of amino acid transport, causing glycine, proline, and hydroxyproline to be excreted in the urine.
a benign familial condition characterized by the abnormal urinary excretion of the imino acids glycine, proline, and hydroxyproline.
iminoglycinuriaA disorder (OMIM:242600) of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine.
Caused by defects of:
• SLC6A19, which encodes a protein that actively transports neutral amino acids, especially leucine, across the apical membrane of intestinal and renal epithelial cells;
• SLC6A20, which encodes a transporter that mediates the uptake of imino acids (e.g., L-proline) and glycine;
• SLC36A2, which encodes a pH-dependent proton-coupled amino acid transporter that primarily transports small amino acids (e.g., glycine, alanine and proline).