Adenylosuccinate lyase deficiency--first British case.

• 影响指数: 1.449
• 发表时间: Oct 2004
• 来源期刊: Nucleosides Nucleotides Nucleic Acids
• DOI: 10.1081/NCN-200027494
• PMID: 15571235
• 文章类型: Case Reports
• 中科院分区: Q4
• 方向: 生物
• 作者列表: Marinaki AM,Champion M,Kurian MA,Simmonds HA,Marie S,Vincent MF,van den Berghe G,Duley JA,Fairbanks LD

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

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).