Asparagine synthetase deficiency (ASNSD, OMIM #615574) is a rare neurometabolic disease with an autosomal recessive inheritance pattern. Initially reported in 2013 by Ruzzo and colleagues, gene sequencing is required for the diagnosis and patients from diverse ethnic origins have been reported [1]. ASNSD results in congenital microcephaly, global developmental delay, severe epilepsy, progressive brain atrophy and ventriculomegaly with mortality as high as 70% during early infancy [2]. Here, we report the first case of a Korean/Vietnamese male child with ASNSD caused by novel compound heterozygous mutations inherited from a Korean father and a Vietnamese mother.
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