Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.
Brain Dev
; 22(6): 383-6, 2000 Sep.
Article
en En
| MEDLINE
| ID: mdl-11042421
ABSTRACT
Adenylosuccinase deficiency, an autosomal recessive inborn error of purine synthesis, was first described in 1984 by Jaeken and Van den Berghe (reviewed in J Inher Metab Dis 20;1997193). The cardinal features are variable psychomotor delay often accompanied by epilepsy and autistic features. Diagnosis is made by detection of abnormal purine metabolites in body fluids. We report a girl who presented with early onset epilepsy, associated with acquired microcephaly and severe psychomotor retardation, as the most prominent symptoms.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Adenilosuccinato Liasa
/
Encefalopatías Metabólicas Innatas
/
Epilepsia
/
Microcefalia
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Brain Dev
Año:
2000
Tipo del documento:
Article
País de afiliación:
Bélgica