Adenylosuccinate lyase deficiency: The first identified polish patient

Brain and Development

Volumn 29, Issue 9, 2007, Pages 600-602

  Jurkiewicz, Elzbieta ^a   Mierzewska, Hanna ^a   Kuśmierska, Katarzyna ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Adenylosuccinate lyase deficiency; Brain magnetic resonance imaging (MRI); Epilepsy; Myelination; Psychomotor retardation

Indexed keywords

ADENOSINE DERIVATIVE; ADENYLOSUCCINATE LYASE; IMIDAZOLE DERIVATIVE; SUCCINYLADENOSINE; SUCCINYLAMINOIMIDAZOLE CARBOXAMIDE RIBOSIDE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; CLINICAL FEATURE; DISEASE SEVERITY; ENZYME DEFICIENCY; EPILEPSY; FEMALE; HUMAN; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING;

ADENYLOSUCCINATE LYASE; FEMALE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; POLAND; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 34548287521     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2007.03.005     Document Type: Article

References (12)

1. Jaeken J., Wadman S.K., Duran M., Sprang F.J., van Beemer F.A., Holl R.A., et al. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr 148 (1988) 126-131
2. Nassogne M., Henrot B., Aubert G., Bonnier C., Marie S., Saint-Martin C., et al. Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly. Brain Develop 22 (2000) 383-386
3. Kohler M., Assmann B., Brautigam C., Storm W., Marie S., Vincent M.-F., et al. Adenylosuccinase deficiency: possibly under diagnosed encephalopathy with variable clinical features. Eur J Paediatr Neurol 3 (1999) 3-6
4. Edery P., Chabrier S., Ceballos-Picot I., Marie S., Vincent M.-F., and Tardieu M. Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. Am J Med Genet 120A (2003) 185-190
5. Fon E.A., Demczuk S., Delattre O., Thomas G., and Rouleau G.A. Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1q-13.2. Cytogenet Cell Genet 64 (1993) 203-210
6. Van den Bergh F.A., Bosschaart A.N., Hageman G., Duran M., and Poll-The B.T. Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death. Neuropediatrics 29 (1998) 51-53
7. Spiegel E.K., Colman R.F., and Patterson D. Adenylosuccinate lyase deficiency. Mol Genet Metab 89 (2006) 19-31
8. Mouchegh K., Zikanova M., Hoffmann G.F., Kretzchmar B., Kuhn T., Mildenberger E., et al. Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of six patients in four families. J Pediatr 150 (2007) 57-61
9. Castro M., Perez-Cerda C., Merinero B., Garcia M.J., Bernar J., Gil Nagel A., et al. Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. Neuropediatrics 33 (2002) 186-189
10. Marinaki A.M., Champion M., Kurian M.A., Simmonds H.A., Marie S., Vincent M.F., et al. Adenylosuccinate lyase deficiency-first British case. Nucleos Nucleot Nucl Acids 23 (2004) 1231-1233
11. Race V., Marie S., Vincent M.-F., and Van den Berghe G. Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. Hum Mol Genet 9 (2000) 2159-2165
12. Kmoch S., Hartmannova H., Stiburkova B., Krijt J., Zikanova M., and 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 9 (2000) 1501-1513