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Article

Adenylosuccinate lyase deficiency--first British case.

Nucleosides, nucleotides & nucleic acids - 1 Oct 2004

Marinaki A M, Champion M, Kurian M A, Simmonds H A, Marie S, Vincent M F, van den Berghe G, Duley J A, Fairbanks L D

Abstract excerpt

A deficiency of adenylosuccinate lyase (ASDL) is characterised by the accumulation of SAICAriboside (SAICAr) and succinyladenosine (S-Ado) in body fluids. The severity of the clinical presentation correlates with a low S-Ado/SAICAr ratio in body fluids. We report the first British case of ADSL deficiency. The patient presented at 14 days with a progressive neonatal encephalopathy and seizures. There was marked...

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Source

Identifiers

PMID: 15571235
DOI: 10.1081/NCN-200027494

Genes

ADSL

Variants

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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