KEGG   DISEASE: Adenylosuccinate lyase deficiency
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
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of nucleotide metabolism
   H00197  Adenylosuccinate lyase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C55  Inborn errors of purine, pyrimidine or nucleotide metabolism
     H00197  Adenylosuccinate lyase deficiency
Pathway
hsa00230  Purine metabolism
hsa00250  Alanine, aspartate and glutamate metabolism
Gene
ADSL; adenylosuccinate lyase [HSA:158] [KO:K01756]
Other DBs
ICD-11: 5C55.0Y
ICD-10: E79.9
MeSH: C538235
OMIM: 103050
Reference
  Authors
Spiegel EK, Colman RF, Patterson D
  Title
Adenylosuccinate lyase deficiency.
  Journal
Mol Genet Metab 89:19-31 (2006)
DOI:10.1016/j.ymgme.2006.04.018
Reference
  Authors
Ciardo F, Salerno C, Curatolo P
  Title
Neurologic aspects of adenylosuccinate lyase deficiency.
  Journal
J Child Neurol 16:301-8 (2001)
DOI:10.1177/088307380101600501
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)
DOI:10.1016/S0387-7604(00)00154-6
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