hyperglycinuria

hyperglycinuria

 [hi″per-gli″sin-u´re-ah]
an aminoaciduria consisting of excessive glycine in the urine; see hyperglycinemia.

hy·per·gly·ci·nu·ri·a

(hī'pĕr-glī'si-nyū'rē-ă),
Enhanced urinary excretion of glycine.

hyperglycinuria

/hy·per·gly·cin·uria/ (-gli″sĭ-nu´re-ah) an excess of glycine in the urine; see hyperglycinemia.

hyperglycinuria

(hī′pər-glī′sə-no͝or′ē-ə)
n.
An abnormally high level of glycine in the urine.

hyperglycinuria

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

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 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).

hy·per·gly·ci·nu·ri·a

(hī'pĕr-glī'si-nyūr'ē-ă)
Enhanced urinary excretion of glycine.

hyperglycinuria

an excess of glycine in the urine.
Full browser ?