Adenylosuccinate lyase deficiency - First British case
(2004) Joint 11th International and 9th European Symposium on Purines and Pyrimidines in Man — Location: Egmond Aan Zee (Netherlands) (9.June.2003)
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- 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).
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Citations
Marinaki, A., Champion, M., Kurian, M., Simmonds, H., Marie, S., Vincent, M.-F., Van den Berghe, G., Duley, J., & Fairbanks, L. (2004). Adenylosuccinate lyase deficiency - First British case. Nucleosides, Nucleotides and Nucleic Acids : an international journal for rapid communication, 23(8-9), 1231-1233. https://doi.org/10.1081/NCN-200027494 (Original work published 2004)