Adenylosuccinate lyase deficiency--first British case

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. doi: 10.1081/NCN-200027494.

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).

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Purines
  • Ribonucleotides
  • Aminoimidazole Carboxamide
  • succinyladenosine
  • Adenylosuccinate Lyase
  • SAICAR
  • Adenosine