Adenylosuccinate lyase deficiency - First British case

被引：13

作者：

Marinaki, AM ^{[1
]}

Champion, M

Kurian, MA

Simmonds, HA

Marie, S

Vincent, MF

van den Berghe, G

Duley, JA

Fairbanks, LD

机构：

[1] Guys Hosp, Purine Res Lab, London SE1 9RT, England

[2] Guys Hosp, Dept Paediat, London SE1 9RT, England

[3] C de Duve Inst Cellular Pathol, Physiol Chem Lab, Brussels, Belgium

来源：

NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS | 2004年 / 23卷 / 8-9期

关键词：

adenylosuccinate lyase; deficiency; ADSL; SAICAriboside; succinyladenosine;

D O I：

10.1081/NCN-200027494

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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).

引用

页码：1231 / 1233

页数：3