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Article

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

Journal of inherited metabolic disease - 1 Nov 2013

Veiga-da-Cunha Maria, Verhoeven-Duif Nanda M, de Koning Tom J, Duran Marinus, Dorland Bert, Van Schaftingen Emile

Abstract excerpt

Phosphohydroxylysinuria has been described in two patients with neurological symptoms, but the deficient enzyme or mutated gene has never been identified. In the present work, we tested the hypothesis that this condition is due to mutations in the AGXT2L2 gene, recently shown to encode phosphohydroxylysine phospholyase. DNA analysis from a third patient, without neurological symptoms, but with an extreme...

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PMID: 23242558
DOI: 10.1007/s10545-012-9568-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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