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Adenylosuccinate lyase deficiency - First British case

By AM Marinaki, M Champion, MA Kurian, HA Simmonds, S. Marie, Marie-Françoise Vincent, Georges Van den Berghe, JA Duley, LD Fairbanks and Joint 11th International and 9th European Symposium on Purines and Pyrimidines in Man

Abstract

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 axial and peripheral hypotonia. Brain MRI showed widespread white matter changes. She died at 4 weeks of age. Concentrations of SAICAr and SAdo were markedly elevated in urine, plasma and CSF and the SAdo/SAICAr ratio was low, consistent with the severe phenotype. The patient was compound heterozygous for 2 novel ADSL mutations; c.9 G>C (A3P) and c.572 C>T (R190X)

Topics: Adenylosuccinate Lyase, Deficiency, Adsl, Saicariboside, Succinyladenosine
Publisher: 'Informa UK Limited'
Year: 2004
DOI identifier: 10.1081/NCN-200027494
OAI identifier: oai:dial.uclouvain.be:boreal:61175
Provided by: DIAL UCLouvain
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