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

Neuropediatrics

Volumn 33, Issue 4, 2002, Pages 186-189

  Castro, M ^a   Perez Cerda C ^a   Merinero, B ^a   Garcia M J ^a   Bernar, J ^a   Gil Nagel, A ^a   Torres, J ^a   Bermudez M ^a   Garavito, P ^a   Marie, S ^a   Vincent, F ^a   Van den Berghe, G ^a   Ugarte, Magdalena ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Adenylosuccinate Lyase (ADSL); Mental Retardation; Purine Metabolism; Refractory Epilepsy

Indexed keywords

ADENOSINE DERIVATIVE; ADENYLOSUCCINATE LYASE; PHENOBARBITAL; PURINE DERIVATIVE; SUCCINYLADENOSINE; SUCCINYLAMINOIMIDAZOLE CARBOXAMIDE RIBOSIDE; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID;

ADENYLOSUCCINATE LYASE DEFICIENCY; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRATTON MARSHALL TEST; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; DIAGNOSTIC TEST; DISEASE MARKER; ENZYME DEFICIENCY; EPILEPSY; FEMALE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; LABORATORY TEST; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; PURINE METABOLISM; URINALYSIS;

ADENYLOSUCCINATE LYASE; ADOLESCENT; ADULT; CHILD, PRESCHOOL; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING;

EID: 18544369011     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2002-34493     Document Type: Article

References (14)

1. 1H-NMR spectroscopy monitoring of ribose treatment in ADSL deficiency. J Inher Metab Dis 2000; 23 (Suppl 1): 381
2. Ciardo F, Salerno C, Curatolo P. Neurologic aspects of adenylosuccinate lyase deficiency. J Child Neurol 2001; 16: 301-308
3. Jaeken J, Van den Berghe G. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet 1984; 2: 1058-1061
4. Köhler M, Assmann B, Bräutigam C, Storm W, Marie S et al. Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features. Eur J Pediatr Neurol 1999; 3: 3-6
5. Krijt J, Kmoch S, Hartmannova H, Havlícek V, Sebesta I. Identification and determination of succinyladenosine in human cerebrospinal fluid. J Chromatrogr B 1999; 726: 53-58
6. Laikind PK, Seegmiller JE, Gruber HE. Detection of 5′-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity. Anal Biochem 1986; 156: 81-90
7. Marie S, Cuppens H, Heuterspreute M, Jaspers M, Zambrano E, Gu XX et al. Mutation analysis in adenylosuccinate lyase deficiency. Eight novel mutations in the re-evaluated full ADSL coding sequence. Hum Mut 1999; 13: 197-202
8. Marie S, Flipsen JWAM, Duran M, Poll-The BT, Beemer FA, Bosschaart AN et al. Prenatal diagnosis in adenylosuccinate lyase deficiency. Prenat Diagn 2000; 20: 33-36
9. Salerno C, D'Eufemia P, Finocchiaro R, Celli M, Spalice A, Iannetti P et al. Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency. Biochim Biophys Acta 1999; 1453: 135-140
10. Sebesta I, Krijt J, Kmoch S, Hartmannova H, Wojda M, Zeman J. Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients. J Inher Metab Dis 1997; 20: 343-344
11. Simmonds HA, Duley JA, Davies PM. Analysis of purines and pyrimidines in blood, urine and other physiological fluids. In: Hommes F (ed). Techniques in Diagnostic Human Biochemical Genetics: a Laboratory Manual. New York: Wiley-Liss, 1991: 397-424
12. Stone TW, Roberts LA, Morris BJ, Jones PA, Ogilvy HA, Behan WMH et al. Succinylpurines induce neuronal damage in the rat brain. In: Griesmacher et al (eds). Purine and Pyrimidine Metabolism in Man. IX. New York: Plenum Press, 1998: 185-189
13. Valik D, Miner PT, Jones JD. First U. S. case of adenylosuccinate lyase deficiency with severe hypotonia. Pediatr Neurol 1997; 16: 252-255
14. Van den Berghe G, Jaeken J. Adenylosuccinate lyase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2000: 2653-2662