Adenylosuccinase deficiency: An unusual cause of early-onset epilepsy associated with acquired microcephaly

Brain and Development

Volumn 22, Issue 6, 2000, Pages 383-386

  Nassogne, Marie Cécile ^a   Henrot, Brigitte ^a   Aubert, Geneviève ^a   Bonnier, Christine ^a   Marie, Sandrine ^b   Saint Martin, Christine ^a   Van Den Berghe, Georges ^b   Sébire, Guillaume ^a   Vincent, Marie Françoise ^a,b  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^b DE DUVE INSTITUTE   (Belgium)

Author keywords

Acquired microcephaly; Adenylosuccinase deficiency; Intractable epilepsy; Metabolic encephalopathy; Spasms

Indexed keywords

ADENINE; ADENYLOSUCCINATE LYASE; ALLOPURINOL; CORTICOTROPIN; LAMOTRIGINE; PHENETURIDE; PURINE; VALPROIC ACID; VIGABATRIN;

ARTICLE; AUTISM; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; DIAGNOSTIC IMAGING; DIAGNOSTIC PROCEDURE; DISEASE ASSOCIATION; DISEASE COURSE; ENZYME DEFICIENCY; EPILEPSY; FEMALE; HUMAN; MICROCEPHALY; PSYCHOMOTOR DISORDER; PURINE SYNTHESIS;

ADENYLOSUCCINATE LYASE; AGE OF ONSET; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CASE REPORT; CHILD, PRESCHOOL; DISEASE PROGRESSION; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; HUMAN; MAGNETIC RESONANCE IMAGING; MICROCEPHALY;

EID: 0033794299     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(00)00154-6     Document Type: Article

References (12)

1. Inborn errors of the purine nucleotide cycle: Adenylosuccinase deficiency
2. An infantile autistic syndrome characterized by the presence of succinylpurines in body fluids
3. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features
4. Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence
5. Adenylosuccinase deficiency: An inborn error of purine nucleotide synthesis
6. First US case of adenylosuccinate lyase deficiency with severe hypotonia
7. Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death
8. Adenylosuccinase deficiency presenting with epilepsy in early infancy
9. Adenylosuccinase deficiency: Clinical and biochemical findings in 5 Czech patients
10. Genetic disorders and cerebellar structural abnormalities in childhood
11. 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
12. Prenatal diagnosis in adenylosuccinate lyase deficiency