Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy.
Early myoclonic encephalopathy presents neonatally with fragmented myoclonus and a suppression-burst electroencephalography pattern. We describe a newborn boy with early myoclonic encephalopathy caused by nonketotic hyperglycinemia. He presented with severe hypotonia, progressive apneic episodes, and erratic myoclonus. Screening of deletions in GLDC, using the multiplex ligation-dependent probe amplification method, and a (13)C breath test confirmed the diagnosis of nonketotic hyperglycinemia. Treatment with the N-methyl-d-aspartate receptor antagonist ketamine exerted dramatic suppressive effects on his seizures, and ameliorated his clinical status.
Suzuki
Yuka
Y
Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan. yusuzuki@m.ehime-u.ac.jp
Kure
Shigeo
S
Oota
Masaaki
M
Hino
Hitomi
H
Fukuda
Mitsumasa
M
D005998:Glycine / Q000097:blood / Q000134:cerebrospinal fluid; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000097:blood / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000628:therapy*; D007231:Infant, Newborn; D008297:Male
D005998:Glycine