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Adenylosuccinate lyase deficiency--first British case
A M Marinaki1, M Champion, M A Kurian
1Purine Research Lab and Paediatric Department, Guy's Hospital, London, UK.
Nucleosides, Nucleotides & Nucleic Acids
|December 2, 2004
Summary
Adenylosuccinate lyase deficiency, a rare genetic disorder, causes neonatal encephalopathy. This first British case highlights a severe phenotype linked to specific genetic mutations and low succinyladenosine/SAICAriboside ratios.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Adenylosuccinate lyase (ADSL) deficiency is an inborn error of purine metabolism.
- It is characterized by the accumulation of SAICAriboside (SAICAr) and succinyladenosine (S-Ado) in biological fluids.
- The clinical severity correlates with the S-Ado/SAICAr ratio.
Observation:
- A severe case of ADSL deficiency in a 14-day-old infant is reported.
- The patient exhibited neonatal encephalopathy, seizures, hypotonia, and white matter changes on MRI.
- Marked elevations of SAICAr and S-Ado were detected in urine, plasma, and CSF.
Findings:
- The patient presented with a low S-Ado/SAICAr ratio, consistent with a severe phenotype.
- Genetic analysis revealed compound heterozygosity for two novel ADSL mutations: c.9 G>C (A3P) and c.572 C>T (R190X).
Implications:
- This case expands the known spectrum of ADSL deficiency phenotypes and genotypes.
- It underscores the importance of biochemical markers for diagnosing and assessing the severity of ADSL deficiency.
- Understanding genotype-phenotype correlations is crucial for potential therapeutic strategies in inherited metabolic disorders.
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