Abstract
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).
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Abbreviations
- ADSL:
-
adenylosuccinate lyase
- S-Ado:
-
succinyl-adenosine
- SAICAr:
-
succinyl-aminoimidazole carboximide riboside
- HPLC:
-
high performance liquid chromatography
- MS/MS:
-
tandem mass spectrometry
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This work was supported by grants from Research and Development, Ministry of Health, Malaysia ( MRG-2006-35).
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Communicated by: Georg Hoffmann
References to electronic databases: Adenylosuccinate lyase deficiency: OMIM 103050. Nomenclature of mutations or genetic variants was based on HUGO/HGVS recommendations: http://www.hgvs.org/mutnomen/
Competing interest: None declared.
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Chen, B.C., McGown, I.N., Thong, M.K. et al. Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. J Inherit Metab Dis 33 (Suppl 3), 159–162 (2010). https://doi.org/10.1007/s10545-010-9056-z
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DOI: https://doi.org/10.1007/s10545-010-9056-z