<unk> , is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide riboside (SAICA riboside) and succinyladenosine (S-Ado) in cerebrospinal fluid, urine. These two succinylpurines are the dephosphorylated derivatives of SAICA ribotide (SAICAR) and<unk>  (S-AMP), the two substrates of<unk><unk>  (ADSL), which catalyzes an important reaction in the de novo pathway of purine biosynthesis. ADSL catalyzes two distinct reactions in the synthesis of purine nucleotides, both of which involve the β-elimination of fumarate to produce aminoimidazole carboxamide ribotide (AICAR) from SAICAR or adenosine monophosphate (AMP) from S-AMP.
Adenylosuccinate lyase deficiency
Guanidinoacetate methyltransferase deficiency
Malonyl-CoA decarboxylase deficiency
Mevalonate kinase deficiency
Aminoacylase 1 deficiency
Carbamoyl phosphate synthetase I deficiency
2,4 Dienoyl-CoA reductase deficiency
Galactose-1-phosphate uridylyltransferase deficiency