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GTR Home > Conditions/Phenotypes > Hyperglycinuria

Hyperglycinuria

Synonyms
GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS; GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS; IMINOGLYCINURIA TYPE II; SLC6A20-Related Hyperglycinuria

Summary

The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG; 242600), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008). A phenotype of combined glucosuria and glycinuria has been described (see 138070). [from OMIM]

Available tests

28 tests are in the database for this condition.

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Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PAT2, TRAMD1, SLC36A2
    Summary: solute carrier family 36 member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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