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Article

Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

European journal of human genetics : EJHG - 1 Jan 2009

Gitiaux Cyril, Ceballos-Picot Irène, Marie Sandrine, Valayannopoulos Vassili, Rio Marlène, Verrieres Séverine, Benoist Jean François, Vincent Marie Françoise, Desguerre Isabelle, Bahi-Buisson Nadia

Abstract excerpt

Adenylosuccinate lyase deficiency is a rare autosomal disorder of de novo purine synthesis, which results in the accumulation of succinylpurines in body fluids. Patients with adenylosuccinate lyase deficiency show a variable combination of mental retardation, epilepsy and autistic features and are usually discovered during screens for unexplained encephalopathy using the Bratton-Marshall assay that reveals the...

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Identifiers

PMID: 18830228
DOI: 10.1038/ejhg.2008.174
PMCID: PMC2985950

Genes

ADSL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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