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).
MeSH terms
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Adenosine / analogs & derivatives*
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Adenosine / blood
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Adenosine / cerebrospinal fluid
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Adenosine / urine
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Adenylosuccinate Lyase / deficiency*
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Adenylosuccinate Lyase / genetics*
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Aminoimidazole Carboxamide / analogs & derivatives*
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Aminoimidazole Carboxamide / blood
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Aminoimidazole Carboxamide / cerebrospinal fluid
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Aminoimidazole Carboxamide / urine
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Catalysis
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Exons
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Fatal Outcome
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Female
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Heterozygote
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Humans
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Infant, Newborn
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Mutation
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Phenotype
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Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis*
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Purine-Pyrimidine Metabolism, Inborn Errors / genetics*
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Purines / metabolism
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Ribonucleotides / blood
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Ribonucleotides / cerebrospinal fluid
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Ribonucleotides / urine
Substances
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Purines
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Ribonucleotides
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Aminoimidazole Carboxamide
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succinyladenosine
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Adenylosuccinate Lyase
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SAICAR
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Adenosine