iminoglycinuria


iminoglycinuria

 [ĭ-me″no-gli″sin-u´re-ah] a benign hereditary disorder of renal tubular reabsorption of glycine, proline, and hydroxyproline, marked by excessive levels of all three substances in the urine.

i·mi·no·gly·ci·nu·ri·a

(i-mē'nō-glī'si-nyū'rē-ă), [MIM*242600] 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

(ĭm′ə-nō-glī′sə-no͝or′ē-ə)n. A benign inborn error of amino acid transport, causing glycine, proline, and hydroxyproline to be excreted in the urine.

iminoglycinuria

A 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.
Molecular pathology
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).

iminoglycinuria

Familial 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.