KEGG   DISEASE: H00197Help
Entry
H00197                      Disease                                

Name
Adenylosuccinate lyase deficiency
Description
Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway. Mental retardation is a major manifestation and most patients have seizures.
Category
Inherited metabolic disease; Nervous system disease
BRITE hierarchy
Pathway
Purine metabolism
Alanine, aspartate and glutamate metabolism
Gene
ADSL; adenylosuccinate lyase [HSA:158] [KO:K01756]
Marker
Succinyladenosine [CPD:C03794]
Succinylaminoimidazole carboxamide ribotide (SAICAR) [CPD:C04823]
Drug
Allopurinol [DR:D00224]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Spiegel EK, Colman RF, Patterson D
  Title
Adenylosuccinate lyase deficiency.
  Journal
Mol Genet Metab 89:19-31 (2006)
Reference
  Authors
Ciardo F, Salerno C, Curatolo P
  Title
Neurologic aspects of adenylosuccinate lyase deficiency.
  Journal
J Child Neurol 16:301-8 (2001)
Reference
  Authors
Nassogne M, Henrot B, Aubert G, Bonnier C, Marie S, Saint-Martin C, Van den Berghe G, Sebire G, Vincent M
  Title
Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.
  Journal
Brain Dev 22:383-6 (2000)

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