hyperglycinuria

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hyperglycinuria2016-12-03T06:32:53+00:00

hyperglycinuria

METABOLISM

Definition A banal inborn error of amino acid transport (OMIM:138500) characterised by excess glycine in the urine, which may be associated with renal colic due to oxalate stones.

Molecular pathology 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 glycine as well as imino acids, and

SLC36A2, which encodes a pH-dependent proton-coupled amino acid transporter that primarily transports small amino acids–e.g., glycine, alanine and proline,

All cause hyperglycinuria

Synonyms Glycinuria with or without oxalate nephrolithiasis, glycinuria with or without oxalate urolithiasis, iminoglycinuria type II 

References http://www.uniprot.org/uniprot/Q695T7

http://www.omim.org/entry/138500

 

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