Journal of Inherited Metabolic Disease

, Volume 33, Supplement 3, pp 159–162 | Cite as

Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations

  • Bee Chin Chen
  • Ivan N. McGown
  • Meow Keong Thong
  • James Pitt
  • Zabedah M. Yunus
  • Teck Beng Khoo
  • Lock Hock Ngu
  • John A. Duley
Case Report


Most cases of adenylosuccinate lyase (ADSL OMIM 103050) deficiency reported to date are confined to the various European ethnic groups. We report on the first Malaysian case of ADSL deficiency, which appears also to be the first reported Asian case. The case was diagnosed among a cohort of 450 patients with clinical features of psychomotor retardation, global developmental delay, seizures, microcephaly and/or autistic behaviour. The patient presented with frequent convulsions and severe myoclonic jerk within the first few days of life and severe psychomotor retardation. The high performance liquid chromatography (HPLC) profile of the urine revealed the characteristic biochemical markers of succinyladenosine (S-Ado) and succinyl-aminoimidazole carboximide riboside (SAICAr). The urinary S-Ado/SAICAr ratio was found to be 1.02 (type I ADSL deficiency). The patient was compound heterozygous for two novel mutations, c.445C > G (p.R149G) and c.774_778insG (p.A260GfsX24).


High Performance Liquid Chromatography AICAR Plasma Amino Acid Myoclonic Jerk Severe Psychomotor Retardation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



adenylosuccinate lyase




succinyl-aminoimidazole carboximide riboside


high performance liquid chromatography


tandem mass spectrometry



This work was supported by grants from Research and Development, Ministry of Health, Malaysia ( MRG-2006-35).


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Copyright information

© SSIEM and Springer 2010

Authors and Affiliations

  • Bee Chin Chen
    • 1
  • Ivan N. McGown
    • 2
  • Meow Keong Thong
    • 3
  • James Pitt
    • 4
  • Zabedah M. Yunus
    • 5
  • Teck Beng Khoo
    • 6
  • Lock Hock Ngu
    • 7
  • John A. Duley
    • 2
    • 8
  1. 1.Biochemical Genetic Unit, Department of GeneticsKuala Lumpur HospitalJalan PahangMalaysia
  2. 2.Pathology DepartmentMater Health ServicesBrisbaneAustralia
  3. 3.Genetic & Metabolism Unit, Dept of Pediatrics, Faculty of MedicineUniversity of MalayaKuala LumpurMalaysia
  4. 4.The Victorian Clinical Genetics Services (VCGS), PathologyMurdoch Children’s Research InstituteMelbourneAustralia
  5. 5.Division of BiochemistryInstitute for Medical ResearchKuala LumpurMalaysia
  6. 6.Division of Pediatric NeurologyKuala LumpurMalaysia
  7. 7.Division of Clinical Genetics, Department of GeneticsKuala Lumpur HospitalKuala LumpurMalaysia
  8. 8.School of PharmacyThe University of QueenslandBrisbaneAustralia

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