Tags: Disease.
Adenylosuccinate lyase deficiency also called adenylosuccinase deficiency is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide riboside (SAICA riboside) and succinyladenosine (S-Ado) in cerebrospinal fluid urine and to a lesser extent in plasma.These two succinylpurines are the dephosphorylated derivatives of SAICA ribotide (SAICAR) and adenylosuccinate (S-AMP) the two substrates of adenylosuccinate lyase (ASL) which catalyzes an important reaction in the de novo pathway of purine biosynthesis.
