Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
2015
Background:
Asparagine synthetasedeficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital
microcephaly, severe
global developmental delay, intractable seizure disorder, and
spastic quadriplegia. Brain MRI showed brain atrophy, delayed myelination, and simplified gyriform pattern.
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