Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.

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 2,000 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.

• Authors: M Castro, C Pérez-Cerdá, B Merinero, M J García, J Bernar, A Gil Nagel, J Torres, M Bermúdez, P Garavito, S Marie, F Vincent, G Van den Berghe, M Ugarte
• Journal: Neuropediatrics (Neuropediatrics) Vol. 33 Issue 4 Pg. 186-9 (Aug 2002) ISSN: 0174-304X [Print] Germany
• PMID: 12368987 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Adenylosuccinate Lyase

Topics

• Adenylosuccinate Lyase (deficiency, genetics, metabolism)
• Adolescent
• Adult
• Child, Preschool
• Fatal Outcome
• Female
• Humans
• Infant
• Infant, Newborn
• Male
• Neonatal Screening