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GTR Home > Conditions/Phenotypes > Phosphohydroxylysinuria

Phosphohydroxylysinuria

Summary

Phosphohydroxylysinuria (PHLU) is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013). [from OMIM]

Available tests

2 tests are in the database for this condition.

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Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGXT2L2, PHLU, PHYKPL
    Summary: 5-phosphohydroxy-L-lysine phospho-lyase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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