Adenylosuccinate lyase deficiency
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. These two succinylpurines are the dephosphorylated derivatives of SAICA ribotide (SAICAR) and adenylosuccinate (S-AMP), the two substrates of adenylosuccinate lyase (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 | |
|---|---|
| Other names | Adenylosuccinase deficiency, |
| Adenylosuccinate lyase deficiency has an autosomal recessive pattern of inheritance. | |
| Symptoms | Aggressive behavior, Microcephaly |
| Causes | Lack of the enzyme adenylosuccinate lyase |
| Diagnostic method | MRI, Genetic testing |
| Treatment | D-ribose and uridine administration |
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