Transient neonatal nonketotic hyperglycinemia: a 13-year follow-up.
We report on a patient with transient nonketotic hyperglycinemia (NKH). Onset, clinical features, biochemical and electroencephalographic findings were consistent with neonatal nonketotic hyperglycinemia. The normalization of clinical, biochemical and electroencephalographic features on day 9 without specific therapy suggested a transient form. At the last follow-up the girl was 13 years old, had a normal mental development, no EEG abnormalities or neurological deficits.
Zammarchi
E
E
Department of Pediatrics, University of Florence, Italy.
Donati
M A
MA
Ciani
F
F
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D004569:Electroencephalography; D005260:Female; D005500:Follow-Up Studies; D005998:Glycine / Q000097:blood* / Q000134:cerebrospinal fluid*; D006801:Humans; D007231:Infant, Newborn
D005998:Glycine