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EC Number	Application	Commentary	Reference
4.2.3.134	medicine	phosphohydroxylysinuria results from mutations in the AGXT2L2 gene, encoding phosphohydroxylysine phospholyase, and the resulting lack of activity o the enzyme. Mutants Gly240Arg and Glu437Val isolated from a patient are largely insoluble. The diversity of the clinical symptoms described in three patients with phosphohydroxylysinuria indicates that this is most likely not a neurometabolic disease	730145

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Release 2023.1 (January 2023)