Adenylosuccinate lyase deficiency - First British case

Marinaki, AM, Champion, M, Kurian, MA, Simmonds, HA, Marie, S, Vincent, MF, van den Berghe, G, Duley, JA and Fairbanks, LD (2004) Adenylosuccinate lyase deficiency - First British case. Nucleosides Nucleotides & Nucleic Acids, 23 8-9: 1231-1233. doi:10.1081/NCN-200027494

Author Marinaki, AM
Champion, M
Kurian, MA
Simmonds, HA
Marie, S
Vincent, MF
van den Berghe, G
Duley, JA
Fairbanks, LD
Title Adenylosuccinate lyase deficiency - First British case
Journal name Nucleosides Nucleotides & Nucleic Acids   Check publisher's open access policy
ISSN 1525-7770
Publication date 2004
Sub-type Article (original research)
DOI 10.1081/NCN-200027494
Volume 23
Issue 8-9
Start page 1231
End page 1233
Total pages 3
Place of publication New York
Publisher Marcel Dekker Inc
Language eng
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).
Keyword Biochemistry & Molecular Biology
adenylosuccinate lyase
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Pharmacy Publications
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Citation counts: TR Web of Science Citation Count  Cited 11 times in Thomson Reuters Web of Science Article | Citations
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Created: Fri, 25 Jan 2008, 16:23:49 EST