Novel features in the evolution of adenylosuccinate lyase deficiency

European Journal of Paediatric Neurology

Volumn 16, Issue 4, 2012, Pages 343-348

  Pérez Dueñas, Belén ^a,b   Sempere, Ángela ^a   Campistol, Jaume ^a,b   Alonso Colmenero, Itziar ^a   Díez, María ^a   González, Verónica ^a   Merinero, Begoña ^b,c   Desviat, Lourdes R ^b,c   Artuch, Rafael ^a,b  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Adenylosuccinate lyase deficiency; Autism spectrum disorder; d ribose; Reflex seizures; Status epilepticus; Stereotypies

Indexed keywords

ADENYLOSUCCINATE LYASE; RIBOSE; SUCCINYLAMINO IMIDAZOLE CARBOXAMIDE RIBOSIDE; UNCLASSIFIED DRUG; URIC ACID;

ADENYLOSUCCINATE LYASE DEFICIENCY; ADOLESCENT; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; CASE REPORT; CHILD; CLINICAL FEATURE; COGNITIVE DEFECT; DEMYELINATING DISEASE; DIODE; DISEASE COURSE; DISEASE SEVERITY; DIVERGENT STRABISMUS; DRUG WITHDRAWAL; ENZYME DEFICIENCY; EPILEPSY; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LANGUAGE DISABILITY; MALE; MENTAL DETERIORATION; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SPASTICITY; THORAX DEFORMITY; URINALYSIS;

ADENYLOSUCCINATE LYASE; ADOLESCENT; BRAIN; CHILD; CHILD BEHAVIOR DISORDERS; CHILD, PRESCHOOL; COGNITION DISORDERS; EDUCATION, SPECIAL; EPILEPSY; EPILEPSY, REFLEX; FEMALE; FEVER; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOVEMENT DISORDERS; MUSCLE SPASTICITY; NEUROPSYCHOLOGICAL TESTS; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; QUADRIPLEGIA; RIBOSE;

EID: 84862003356     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2011.08.008     Document Type: Article

References (16)

1. K. Mouchegh, M. Zikánová, and G.F. Hoffmann Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families J Pediatr 150 2007 57 61
2. E.K. Spiegel, R.F. Colman, and D. Patterson Adenylosuccinate lyase deficiency Mol Genet Metab 89 2006 19 31
3. L.K. Vliet, T.G. Wilkinson, and N. Duval Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency Mol Genet Metab 102 2011 61 68
4. F. Van den Bergh, M.F. Vincent, J. Jaeken, and G. Van den Bergh Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl J Inherit Metab Dis 16 1993 415 424
5. M. Castro, C. Pérez-Cerdá, and B. Merinero Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients Neuropediatrics 33 2002 186 189
6. P. Edery, S. Chabrier, and I. Ceballos-Picot Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients Am J Med Genet 120A 2003 185 190
7. J. Jaeken, and G. Van den Bergh An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids Lancet 2 1984 1058 1061
8. A. Jurecka, A. Tylki-Szymanska, M. Zikanova, J. Krijt, and S. Kmoch D-Ribose therapy in four patients with adenylosuccinate lyase deficiency: absence of positive effect J Inherit Metab Dis 2008 Jul 12 [Epub ahead of print]
9. M. Zikanova, V. Skopova, A. Hnizda, J. Krijt, and S. Kmoch Biochemical and structural analysis of 14 mutant ADSL enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency Hum Mutat 31 2010 445 455
10. C. Salerno, P. D'Eufemia, and R. Finocchiaro Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency Biochim Biophys Acta 1453 1999 135 140
11. A. Sempere, A. Arias, and G. Farré Study of inborn errors of metabolism in urine from patients with unexplained mental retardation J Inherit Metab Dis 33 2010 1 7
12. M. Köhler, B. Assmann, and C. Bräutigam Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features Eur J Paediatr Neurol 3 1999 3 6
13. F. Ciardo, C. Salerno, and P. Curatolo Neurologic aspects of adenylosuccinate lyase deficiency J Child Neurol 16 2001 301 308
14. J. Aicardi, A. Arzimanoglou, and R. Guerrini Stimulous-sensitive epilepsies J. Aicardi, A. Arzimanoglou, R. Guerrini, Aicardi's epilepsy in children 2004 Lippincott Williams & Wilkins Philadelphia 262 278
15. A. Nechay, and J.B. Stephenson Bath-induced paroxysmal disorders in infancy Eur J Paediatr Neurol 13 2009 203 208
16. S. Kmoch, H. Hartmannova, and B. Stiburkova Human adenylosuccinate lyase (ADSL) cloning and characterization of full-length cDNA and its isoform gene structure and molecular basis for ADSL deficiency in six patients Hum Mol Genet 9 2000 1501 1513