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.
Key words
Adenylosuccinate Lyase (ADSL) - Purine Metabolism - Refractory Epilepsy - Mental Retardation
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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