Neuropediatrics 2002; 33(4): 186-189
DOI: 10.1055/s-2002-34493
Original Article

Georg Thieme Verlag Stuttgart · New York

Screening for Adenylosuccinate Lyase Deficiency: Clinical, Biochemical and Molecular Findings in Four Patients

M. Castro1 , C. Pérez-Cerdá1 , B. Merinero1 , M. J. García1 , J. Bernar2 , A. Gil Nagel2 , J. Torres3 , M. Bermúdez4 , P. Garavito4 , S. Marie5 , F. Vincent5 , G. Van den Berghe5 , M. Ugarte1
  • 1 Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Madrid, Spain
  • 2 Servicio de Genética y Neurología, Hospital Ruber Internacional, Madrid, Spain
  • 3 Servicio de Pediatría, Hospital de Móstoles, Madrid, Spain
  • 4 Unidad de Biología Procreativa, Hospital Materno Infantil de Santa Fe de Bogotá, Colombia
  • 5 Laboratory of Physiological Chemistry, International Institute of Cellular and Molecular Pathology, Brussels, Belgium
Further Information

Publication History

Received: December 17, 2001

Accepted after Revision: April 25, 2002

Publication Date:
07 October 2002 (online)

Abstract

Adenylosuccinate lyase deficiency is an autosomal recessive defect of purine metabolism. Succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr) are the disease marker metabolites in physiological fluids. The Bratton-Marshall test for detection of SAICAr in urine has been added to the selective screening for inborn errors of metabolism that is carried out in our lab. During the last three years, around 2000 patients have been screened by this method, resulting in the detection of four new cases with this disease. They all presented with severe psychomotor delay, hypotonia and refractory epilepsy since the neonatal period. The S-Ado/SAICAr ratio in cerebrospinal fluid was below 2, indicating that they correspond to the most severe form of the disease. New missense mutations were found in a heterozygous fashion in three patients. The study of purines in all patients with neurological disease of unknown etiology is highly recommended.

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Prof. Magdalena Ugarte

Centro de Diagnóstico de Enfermedades Moleculares, Dept. Biología Molecular, Universidad Autónoma de Madrid

28049 Madrid

Spain

Email: mugarte@cbm.uam.es

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