RSS-Feed abonnieren
DOI: 10.1055/s-0033-1337335
Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature
Publikationsverlauf
09. Oktober 2012
28. Januar 2013
Publikationsdatum:
16. März 2013 (online)
Abstract
We present a 9-year follow-up of a patient with an attenuated (type II) adenylosuccinate lyase deficiency with no obvious signs of disease progression and degradation. We also review the literature, focusing on attenuated phenotype, and we report a positive effect of a ketogenic diet on seizure control. The patient presented at the age of 5 months with a history of global developmental delay. Screening of urinary purine metabolites revealed elevation of succinyladenosine and succinylaminoimidazolecarboxamide riboside (a ratio of 2:1). Mutation analysis revealed a compound heterozygosity for missense mutations: p.R426H and p.D268H. She began to walk independently at the age of 3 years. From the age of 4 years, her communication skills improved and she presented fewer autistic features. Due to poor results in seizure control, the ketogenic diet was introduced at the age of 7 years, resulting in reduction of seizure frequency. Currently, at the age of 9 years, the girl is attending a special kindergarten and is functioning very well in her preschool group. She began to make statements that form a logical continuity and make progress in simple manual operations. The patient participates in therapies such as pet therapy, hippotherapy, speech therapy, physiotherapy, hydrotherapy, and music therapy.
-
References
- 1 van den Berghe G, Jaeken J. Adenylosuccinase deficiency: A disorder of purine synthesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, , editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001
- 2 Kmoch S, Hartmannová H, Stibůrková B, Krijt J, Zikánová M, Sebesta I. 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 2000; 9: 1501-1513
- 3 Jurecka A, Zikanova M, Tylki-Szymanska A , et al. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. Mol Genet Metab 2008; 94: 435-442
- 4 Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. Hum Mutat 2010; 31: 445-455
- 5 Jurecka A, Jurkiewicz E, Tylki-Szymanska A. Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. Eur J Pediatr 2012; 171: 131-138
- 6 de Bree PK, Wadman SK, Duran M, Fabery de Jonge H. Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines. Clin Chim Acta 1986; 156: 279-287
- 7 Krijt J, Kmoch S, Hartmannová H, Havlícek V, Sebesta I. Identification and determination of succinyladenosine in human cerebrospinal fluid. J Chromatogr B Biomed Sci Appl 1999; 726: 53-58
- 8 Jurecka A, Tylki-Szymanska A, Zikanova M, Krijt J, Kmoch S. D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect. J Inherit Metab Dis 2008; 31 (Suppl. 02) S329-S332
- 9 Jaeken J, Wadman SK, Duran M , et al. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr 1988; 148: 126-131
- 10 Van den Bergh F, Vincent MF, Jaeken J, Van den Berghe G. 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 1993; 16: 415-424
- 11 Valik D, Miner PT, Jones JD. First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia. Pediatr Neurol 1997; 16: 252-255
- 12 Sebesta I, Krijt J, Kmoch S, Hartmannová H, Wojda M, Zeman J. Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients. J Inherit Metab Dis 1997; 20: 343-344
- 13 Race V, Marie S, Vincent MF, Van den Berghe G. Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. Hum Mol Genet 2000; 9: 2159-2165
- 14 Stathis SL, Cowley DM, Broe D. Autism and adenylosuccinase deficiency. J Am Acad Child Adolesc Psychiatry 2000; 39: 274-275
- 15 Spiegel EK, Colman RF, Patterson D. Adenylosuccinate lyase deficiency. Mol Genet Metab 2006; 89: 19-31
- 16 Henneke M, Dreha-Kulaczewski S, Brockmann K , et al. In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. NMR Biomed 2010; 23: 441-445
- 17 Perez-Duenas B, Sempere A, Campistol J , et al. Novel features in the evolution of adenylosuccinate lyase deficiency. Eur J Paediatr Neurol 2012; 16 (4) 343-348
- 18 Sivendran S, Patterson D, Spiegel E, McGown I, Cowley D, Colman RF. Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL. J Biol Chem 2004; 279: 53789-53797
- 19 Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. Hum Mutat 2010; 31: 445-455
- 20 Wadman SK, de Bree PK, Duran M, de Jonge HF. Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles. Adv Exp Med Biol 1986; 195 (Pt A) 21-25
- 21 Maddocks J, Reed T. Urine test for adenylosuccinase deficiency in autistic children. Lancet 1989; 1: 158-159
- 22 Jaeken J, van den Berghe G. Screening for inborn errors of purine synthesis. Lancet 1989; 1: 500
- 23 Domkin VD, Lazebnik TA, Roudneff AYu, Smirnov MN. A new diagnostic technique for adenylosuccinate lyase deficiency. J Inherit Metab Dis 1995; 18: 291-294
- 24 Gross M, Gathof BS, Kölle P, Gresser U. Capillary electrophoresis for screening of adenylosuccinate lyase deficiency. Electrophoresis 1995; 16: 1927-1929
- 25 Hornik P, Vyskocilová P, Friedecký D, Janostáková A, Adamová K, Adam T. Analysis of aminoimidazole ribosides by capillary electrophoresis—diagnosing defects in second part of purine biosynthetic pathway. Clin Chim Acta 2007; 376: 184-189
- 26 Zulfiqar M, Lin DD, Van der Graaf M , et al. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. J Magn Reson Imaging 2012;
- 27 Salerno C, Celli M, Finocchiaro R , et al. Effect of D-ribose administration to a patient with inherited deficit of adenylosuccinase. Adv Exp Med Biol 1998; 431: 177-180
- 28 Salerno C, Crifo C, Curatolo P, Ciardo F. Effect of uridine administration to a patient with adenylosuccinate lyase deficiency. Adv Exp Med Biol 2000; 486: 75-78
- 29 Jurecka A, Opoka-Winiarska V, Rokicki D, Tylki-Szymańska A. Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency. J Child Neurol 2012; 27: 645-649