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Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
J Inherit Metab Dis 2010; 33 Suppl 3:S159-62JI

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).

Authors+Show Affiliations

Biochemical Genetic Unit, Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang 50586, Malaysia. beechinmy@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20177786

Citation

Chen, Bee Chin, et al. "Adenylosuccinate Lyase Deficiency in a Malaysian Patient, With Novel Adenylosuccinate Lyase Gene Mutations." Journal of Inherited Metabolic Disease, vol. 33 Suppl 3, 2010, pp. S159-62.
Chen BC, McGown IN, Thong MK, et al. Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. J Inherit Metab Dis. 2010;33 Suppl 3:S159-62.
Chen, B. C., McGown, I. N., Thong, M. K., Pitt, J., Yunus, Z. M., Khoo, T. B., ... Duley, J. A. (2010). Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. Journal of Inherited Metabolic Disease, 33 Suppl 3, pp. S159-62. doi:10.1007/s10545-010-9056-z.
Chen BC, et al. Adenylosuccinate Lyase Deficiency in a Malaysian Patient, With Novel Adenylosuccinate Lyase Gene Mutations. J Inherit Metab Dis. 2010;33 Suppl 3:S159-62. PubMed PMID: 20177786.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. AU - Chen,Bee Chin, AU - McGown,Ivan N, AU - Thong,Meow Keong, AU - Pitt,James, AU - Yunus,Zabedah M, AU - Khoo,Teck Beng, AU - Ngu,Lock Hock, AU - Duley,John A, Y1 - 2010/02/23/ PY - 2009/10/24/received PY - 2010/01/18/accepted PY - 2010/01/08/revised PY - 2010/2/24/entrez PY - 2010/2/24/pubmed PY - 2014/4/9/medline SP - S159 EP - 62 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 33 Suppl 3 N2 - 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). SN - 1573-2665 UR - https://www.unboundmedicine.com/medline/citation/20177786/Adenylosuccinate_lyase_deficiency_in_a_Malaysian_patient_with_novel_adenylosuccinate_lyase_gene_mutations_ L2 - https://doi.org/10.1007/s10545-010-9056-z DB - PRIME DP - Unbound Medicine ER -