We report a 4 months old female who manifested by generalized hypotonia, lethargy, apnea, and myoclonic seizures in early infant period and confirmed o nonketotic hyperglycinemia by elevated plasma and cerebrospinal fluid glycine concentrations and ma...
We report a 4 months old female who manifested by generalized hypotonia, lethargy, apnea, and myoclonic seizures in early infant period and confirmed o nonketotic hyperglycinemia by elevated plasma and cerebrospinal fluid glycine concentrations and markely elevated cerebrospinal fluid/plasma glycine ratio.