Adenylosuccinase deficiency presenting with epilepsy in early infancy

Journal of Inherited Metabolic Disease

Volumn 20, Issue 4, 1997, Pages 606-607

  Maaswinkel Mooij, P D ^a   Laan, L A E M ^a   Onkenhout, W ^a   Brouwer, O F ^a   Jaeken, J ^b   Poorthuis, B J H M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID DERIVATIVE; ADENYLOSUCCINATE LYASE; ARGININE; HISTIDINE; PHENOBARBITAL;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DEMYELINATING DISEASE; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; EPILEPSY; FEMALE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; POINT MUTATION; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SPIKE WAVE; WEST SYNDROME;

ANTICONVULSANTS; EPILEPSY, GENERALIZED; FEMALE; HUMANS; INFANT; MENTAL RETARDATION; PHENOBARBITAL; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 0030758237     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005323512982     Document Type: Article

References (2)

1. Jaeken J, Wadman SK, Duran M, et al (1988) Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr 148: 126-131.
2. Maddocks J, Reed T (1989) Urine test for adenylosuccinase deficiency in autistic children. Lancet i: 158-159.