Nonketotic hyperglycinemia is an autosomal recessive inborn error of metabolism that commonly presents in the neonatal period with hypotonia, intractable seizures, apneic attacks, and a burst-suppression pattern EEG. No effective treatment is available, and diagnosis is essential for prognostication and genetic counseling. A diagnosis of nonketotic hyperglycinemia can only be confirmed by enzyme or DNA analysis.
Mar. 22, 2020