Nonketotic hyperglycinemia in a newborn infant.
A neonate with nonketotic hyperglycinemia who experienced apnea, hiccups and tonic-clonic seizures on the first day of life is reported. The physical findings and laboratory tests including arterial blood gases were normal. However, serial blood and CSF amino-acid analyses demonstrated elevated glycine levels. Serum and CSF glycine levels were 1949 mumol/L and 415.5 mumol/L, respectively. (Normal serum level is 104-254 mumol/L and CSF level is 5 +/- 2 mumol/L). The CSF/plasma glycine ratio was 0.11. Oral sodium benzoate and folic acid therapy was initiated. After two weeks of assisted ventilation and clinical improvement, the patient was discharged with a protein-restricted diet.
Tekinalp
G
G
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Coşkun
T
T
Oran
O
O
Ozalp
I
I
Figen
G
G
Ergin
H
H
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000134:cerebrospinal fluid* / Q000628:therapy; D001565:Benzoates / Q000627:therapeutic use; D018753:Diet, Protein-Restricted; D005998:Glycine / Q000097:blood / Q000134:cerebrospinal fluid*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012121:Respiration, Artificial
D001565:Benzoates; D005998:Glycine