Adenylosuccinate lyase deficiency

Definition:

Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway. Mental retardation is a major manifestation and most patients have seizures.

References:

[1]. Erin K Spiegel, et al. Adenylosuccinate lyase deficiency. Mol Genet Metab. 2006 Sep-Oct;89(1-2):19-31. [Content Brief]

[2]. F Ciardo, et al. Neurologic aspects of adenylosuccinate lyase deficiency. J Child Neurol. 2001 May;16(5):301-8. [Content Brief]

[3]. M Nassogne, et al. Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly. Brain Dev. 2000 Sep;22(6):383-6. [Content Brief]

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