Adenylosuccinate lyase deficiency is a rare autosomal recessive metabolic disorder of purine synthesis. It is recognised biochemically by the appearance in cerebrospinal fluid and urine of two succinylpurines, succinylaminoimidazolecarboxamide riboside (SAICA riboside) and succinyladenosine (S-Ado). These are the dephosphorylated forms of the two substrates of the enzyme adenylosuccinate lyase (ADSL), which acts in the de novo pathway of purine biosynthesis. ADSL catalyses two separate reactions in making purine nucleotides, each of which removes fumarate by beta-elimination, producing aminoimidazole carboxamide ribotide (AICAR) from SAICAR in one and adenosine monophosphate (AMP) from S-AMP in the other.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Adenylosuccinate lyase deficiency (Wikipedia)
Lead, first sentence
rare autosomal recessive metabolic disorder
lead sentence 1
Adenylosuccinate lyase 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.
Lead: disease category
Adenylosuccinate lyase 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.
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