Document Detail

Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.
MedLine Citation:
PMID:  12368987     Owner:  NLM     Status:  MEDLINE    
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.
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
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuropediatrics     Volume:  33     ISSN:  0174-304X     ISO Abbreviation:  Neuropediatrics     Publication Date:  2002 Aug 
Date Detail:
Created Date:  2002-10-07     Completed Date:  2002-11-13     Revised Date:  2008-01-16    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  186-9     Citation Subset:  IM    
Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Madrid, Spain.
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MeSH Terms
Adenylosuccinate Lyase / deficiency*,  genetics,  metabolism*
Child, Preschool
Fatal Outcome
Infant, Newborn
Neonatal Screening*
Reg. No./Substance:
EC Lyase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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