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Capillary electrophoresis for screening of adenylosuccinate lyase deficiency.
Electrophoresis 1995; 16(10):1927-9E

Abstract

We report a new screening method for adenylosuccinate lyase (ASase) deficiency using capillary electrophoresis (CE). This enzyme defect causes secondary autism and psychomotor retardation in early childhood. In all body fluids of these patients, two succinylpurine metabolites can be found that are normally not detectable: succinyladenosine and succinylaminoimidazole carboxamide (SAICA) riboside. A Beckman P/ACE 2050 capillary electrophoresis system was used with a 47.1 cm capillary, 75 microns ID, and the P/ACE Beckman UV absorbance detector. Untreated urine, injected for 1 s, was separated in a pH 8.63 borate buffer at 20 kV. The two succinylpurines (migration times 13.36 and 13.60 min) were detected at 254 nm only in urine of patients with ASase deficiency but not in control samples.

Authors+Show Affiliations

Purinlabor, Medizinischen Poliklinik, Klinikum Innenstadt, Ludwig-Maximilians-Universität München, Germany.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

8586067

Citation

Gross, M, et al. "Capillary Electrophoresis for Screening of Adenylosuccinate Lyase Deficiency." Electrophoresis, vol. 16, no. 10, 1995, pp. 1927-9.
Gross M, Gathof BS, Kölle P, et al. Capillary electrophoresis for screening of adenylosuccinate lyase deficiency. Electrophoresis. 1995;16(10):1927-9.
Gross, M., Gathof, B. S., Kölle, P., & Gresser, U. (1995). Capillary electrophoresis for screening of adenylosuccinate lyase deficiency. Electrophoresis, 16(10), pp. 1927-9.
Gross M, et al. Capillary Electrophoresis for Screening of Adenylosuccinate Lyase Deficiency. Electrophoresis. 1995;16(10):1927-9. PubMed PMID: 8586067.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Capillary electrophoresis for screening of adenylosuccinate lyase deficiency. AU - Gross,M, AU - Gathof,B S, AU - Kölle,P, AU - Gresser,U, PY - 1995/10/1/pubmed PY - 1995/10/1/medline PY - 1995/10/1/entrez SP - 1927 EP - 9 JF - Electrophoresis JO - Electrophoresis VL - 16 IS - 10 N2 - We report a new screening method for adenylosuccinate lyase (ASase) deficiency using capillary electrophoresis (CE). This enzyme defect causes secondary autism and psychomotor retardation in early childhood. In all body fluids of these patients, two succinylpurine metabolites can be found that are normally not detectable: succinyladenosine and succinylaminoimidazole carboxamide (SAICA) riboside. A Beckman P/ACE 2050 capillary electrophoresis system was used with a 47.1 cm capillary, 75 microns ID, and the P/ACE Beckman UV absorbance detector. Untreated urine, injected for 1 s, was separated in a pH 8.63 borate buffer at 20 kV. The two succinylpurines (migration times 13.36 and 13.60 min) were detected at 254 nm only in urine of patients with ASase deficiency but not in control samples. SN - 0173-0835 UR - https://www.unboundmedicine.com/medline/citation/8586067/Capillary_electrophoresis_for_screening_of_adenylosuccinate_lyase_deficiency_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0173-0835&date=1995&volume=16&issue=10&spage=1927 DB - PRIME DP - Unbound Medicine ER -