page_title: Adenylosuccinate lyase deficiency
section_title: Treatment
hierarchical_section_title: Adenylosuccinate lyase deficiency / Treatment
caption_attribution_description: English: A space filling diagram of S-adenosyl methionine.
context_page_description: Adenylosuccinate lyase deficiency, is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide riboside and succinyladenosine in cerebrospinal fluid, urine. These two succinylpurines are the dephosphorylated derivatives of SAICA ribotide and adenylosuccinate, the two substrates of adenylosuccinate lyase, 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 from SAICAR or adenosine monophosphate from S-AMP.
context_section_description: Treatment of adenylosuccinate lyase deficiency can be done via epilepsy management with anticonvulsive drugs. Additionally the following options include:
  D-ribose and uridine administration
  Ketogenic diet
  S-adenosyl-l-methionine
caption: S-adenosylmethionine
exif: {}