Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 4.3.2.2 extracted from

  • Jurecka, A.; Tylki-Szymanska, A.; Zikanova, M.; Krijt, J.; Kmoch, S.
    D-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect (2008), J. Inherit. Metab. Dis., 31, S329-332.
    View publication on PubMed

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens adenylosuccinate lyase deficiency is an autosomal recessive disorder of the purine de novo synthesis pathway and purine nucleotide cycleby severe neurological involvement including hypotonia, seizures, developmental delay and autistic features. Epilepsy in ADSL deficiency is frequent and occurs in approximately two-thirds of patients, beginning either early in the neonatal period or after the first year of life ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information adenylosuccinate lyase deficiency is an autosomal recessive disorder of the purine de novo synthesis pathway and purine nucleotide cycleby severe neurological involvement including hypotonia, seizures, developmental delay and autistic features. Epilepsy in ADSL deficiency is frequent and occurs in approximately two-thirds of patients, beginning either early in the neonatal period or after the first year of life Homo sapiens ?
-
?

Synonyms

Synonyms Comment Organism
ADSL
-
Homo sapiens