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Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.
Clin Chim Acta 1986; 156(3):279-87CC

Abstract

Patients with inherited adenylosuccinase deficiency excrete large quantities of succinyloaminoimidazolecarboxamide riboside (SAICAR) and succinyloadenosine (SAdo). A two-dimensional thin-layer chromatography method for the detection of SAICAR is described. The method consists of isolation of imidazoles with a cation exchange resin; TLC on cellulose plates, solvent I, isopropanol-ammonia 10% (4:1) and II, butanol-acetic acid-water (4:1:1); detection with Pauly reagent. SAICAR gives rise to an isolated spot with a characteristic bluish color. Also a simple one-dimensional thin-layer chromatography method using urine without any pretreatment for screening of high risk populations is given. Four new cases could be diagnosed. Clinical and chemical data, including concentrations of SAICAR and SAdo in urine, plasma and cerebrospinal fluid, determined by cation exchange column chromatography, are presented.

Authors

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Pub Type(s)

Journal Article

Language

eng

PubMed ID

3719985

Citation

de Bree, P K., et al. "Diagnosis of Inherited Adenylosuccinase Deficiency By Thin-layer Chromatography of Urinary Imidazoles and By Automated Cation Exchange Column Chromatography of Purines." Clinica Chimica Acta; International Journal of Clinical Chemistry, vol. 156, no. 3, 1986, pp. 279-87.
de Bree PK, Wadman SK, Duran M, et al. Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines. Clin Chim Acta. 1986;156(3):279-87.
de Bree, P. K., Wadman, S. K., Duran, M., & Fabery de Jonge, H. (1986). Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines. Clinica Chimica Acta; International Journal of Clinical Chemistry, 156(3), pp. 279-87.
de Bree PK, et al. Diagnosis of Inherited Adenylosuccinase Deficiency By Thin-layer Chromatography of Urinary Imidazoles and By Automated Cation Exchange Column Chromatography of Purines. Clin Chim Acta. 1986 May 15;156(3):279-87. PubMed PMID: 3719985.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines. AU - de Bree,P K, AU - Wadman,S K, AU - Duran,M, AU - Fabery de Jonge,H, PY - 1986/5/15/pubmed PY - 1986/5/15/medline PY - 1986/5/15/entrez SP - 279 EP - 87 JF - Clinica chimica acta; international journal of clinical chemistry JO - Clin. Chim. Acta VL - 156 IS - 3 N2 - Patients with inherited adenylosuccinase deficiency excrete large quantities of succinyloaminoimidazolecarboxamide riboside (SAICAR) and succinyloadenosine (SAdo). A two-dimensional thin-layer chromatography method for the detection of SAICAR is described. The method consists of isolation of imidazoles with a cation exchange resin; TLC on cellulose plates, solvent I, isopropanol-ammonia 10% (4:1) and II, butanol-acetic acid-water (4:1:1); detection with Pauly reagent. SAICAR gives rise to an isolated spot with a characteristic bluish color. Also a simple one-dimensional thin-layer chromatography method using urine without any pretreatment for screening of high risk populations is given. Four new cases could be diagnosed. Clinical and chemical data, including concentrations of SAICAR and SAdo in urine, plasma and cerebrospinal fluid, determined by cation exchange column chromatography, are presented. SN - 0009-8981 UR - https://www.unboundmedicine.com/medline/citation/3719985/Diagnosis_of_inherited_adenylosuccinase_deficiency_by_thin_layer_chromatography_of_urinary_imidazoles_and_by_automated_cation_exchange_column_chromatography_of_purines_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0009-8981(86)90071-9 DB - PRIME DP - Unbound Medicine ER -