1. Adenylosuccinate Lyase Deficiency—First British Case.
- Author
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Marinaki, A.M., Champion, M., Kurian, M.A., Simmonds, H.A., Marie, S., Vincent, M.F., van den Berghe, G., Duley, J.A., and Fairbanks, L.D.
- Subjects
LYASES ,BODY fluids ,PHENOTYPES ,GENETIC mutation - 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). [ABSTRACT FROM AUTHOR]
- Published
- 2004
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