title: Adenylosuccinate lyase deficiency--first British case.
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).
authors.affiliation: Purine Research Lab and Paediatric Department, Guy's Hospital, London, UK.
authors.forename: A M
authors.initials: AM
authors.lastname: Marinaki
authors.forename: M
authors.initials: M
authors.lastname: Champion
authors.forename: M A
authors.initials: MA
authors.lastname: Kurian
authors.forename: H A
authors.initials: HA
authors.lastname: Simmonds
authors.forename: S
authors.initials: S
authors.lastname: Marie
authors.forename: M F
authors.initials: MF
authors.lastname: Vincent
authors.forename: G
authors.initials: G
authors.lastname: van den Berghe
authors.forename: J A
authors.initials: JA
authors.lastname: Duley
authors.forename: L D
authors.initials: LD
authors.lastname: Fairbanks
mesh_terms: D000241:Adenosine / Q000031:analogs & derivatives* / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine; D000264:Adenylosuccinate Lyase / Q000172:deficiency* / Q000235:genetics*; D000620:Aminoimidazole Carboxamide / Q000031:analogs & derivatives* / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine; D002384:Catalysis; D005091:Exons; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D011687:Purines / Q000378:metabolism; D012265:Ribonucleotides / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine
chemical_list: D011687:Purines; D012265:Ribonucleotides; D000620:Aminoimidazole Carboxamide; C043565:succinyladenosine; D000264:Adenylosuccinate Lyase; C020635:SAICAR; D000241:Adenosine