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a benign hereditary disorder of renal tubular reabsorption of glycine, proline, and hydroxyproline, marked by excessive levels of all three substances in the urine.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
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.
Farlex Partner Medical Dictionary © Farlex 2012
A benign inborn error of amino acid transport, causing glycine, proline, and hydroxyproline to be excreted in the urine.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
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).
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
iminoglycinuriaFamilial iminoglycinuria Molecular medicine A benign AR condition characterized by defective tubular resorption and urinary spilling of proline, hydroxyproline and glycine; iminoglycinuria is a normal physiologic event that occurs in neonates, whose renal transport mechanisms are immature; iminoglycinuria may also occur in Fanconi syndrome and hyperprolinemia. See Hyperglyinuria.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.