Asparagine synthetase deficiency

Definition:

Asparagine synthetase deficiency is an autosomal recessive disorder characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Recessive mutations in the ASNS gene, encoding asparagine synthetase which catalyzes the synthesis of asparagine from glutamine and aspartate, are responsible for this syndrome.

References:

[1]. Elizabeth K Ruzzo, et al. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron. 2013 Oct 16;80(2):429-41. [Content Brief]

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