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Adenylosuccinate lyase deficiency
Adenylosuccinate lyase deficiency is a heritable deficiency which is characterized by the appearance of succinylaminoimidazolecarboxamide riboside (SAICAriboside) and succinyladenosine (S-Ado) in cerebrospinal fluid, urine, and to a lesser extent in plasma Jaeken and Van den Berge, "Adenylosuccinate Lyase Deficiency", The Metabolic and Molecular Bases of Inherited Diseases, Vol. 2, 8th ed.
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