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Article

Adenylosuccinate lyase deficiency.

Journal of inherited metabolic disease - 1 Mar 2015

Jurecka Agnieszka, Zikanova Marie, Kmoch Stanislav, Tylki-Szymańska Anna

Abstract excerpt

Adenylosuccinate lyase ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. Biochemically this defect manifests by the presence in the biologic fluids of two dephosphorylated substrates of ADSL enzyme: succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine...

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Source

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Identifiers

PMID: 25112391
DOI: 10.1007/s10545-014-9755-y
PMCID: PMC4341013

Genes

ADSL

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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