腺苷酸琥珀酸裂解酶缺乏症——首例英国病例。
Adenylosuccinate lyase deficiency--first British case.
作者信息
Marinaki A M, Champion M, Kurian M A, Simmonds H A, Marie S, Vincent M F, van den Berghe G, Duley J A, Fairbanks L D
机构信息
Purine Research Lab and Paediatric Department, Guy's Hospital, London, UK.
出版信息
Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. doi: 10.1081/NCN-200027494.
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).
腺苷琥珀酸裂解酶（ASDL）缺乏症的特征是体液中SAICA核苷（SAICAr）和琥珀酰腺苷（S - Ado）的积累。临床表现的严重程度与体液中低S - Ado/SAICAr比值相关。我们报告了英国首例ADSL缺乏症病例。该患者在14天时出现进行性新生儿脑病和癫痫发作。存在明显的轴向和外周肌张力低下。脑部MRI显示广泛的白质改变。她在4周龄时死亡。尿液、血浆和脑脊液中SAICAr和SAdo的浓度显著升高，且SAdo/SAICAr比值较低，与严重表型一致。该患者为两个新型ADSL突变的复合杂合子；c.9 G>C（A3P）和c.572 C>T（R190X）。
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