TY - JOUR
T1 - Prenatal Diagnosis of Glycine Encephalopathy
AU - Böhles, Hans
AU - Daly, Edward C.
AU - Flannery, David B.
AU - Wolf, Barry
AU - García-Castro, José M.
AU - Isales-Forsythe, Carlos M.
AU - Laó-Véléz, Carlos R.
AU - González-Ríos, María Del Carmen
AU - de Torres, Luz C.Reyes
AU - Levy, Harvey L.
AU - Shih, Vivian E.
PY - 1982/6/10
Y1 - 1982/6/10
N2 - To the Editor: The report by García-Castro et al.* in the January 14 issue describes the prenatal diagnosis of nonketotic hyperglycinemia. In 1979 we diagnosed nonketotic hyperglycinemia in a three-month-old boy presenting with hypotonia, general retardation, and seizures. The diagnosis was confirmed in two other independent laboratories. In December 1980 the mother told us she was pregnant and asked for a prenatal diagnosis. Amniotic fluid was obtained for analysis of free amino acids at 18 weeks of gestation. Amino acid analysis was performed by ion-exchange column chromatography. The concentrations were 419 μmol per liter for glycine and 27 μmol per.
AB - To the Editor: The report by García-Castro et al.* in the January 14 issue describes the prenatal diagnosis of nonketotic hyperglycinemia. In 1979 we diagnosed nonketotic hyperglycinemia in a three-month-old boy presenting with hypotonia, general retardation, and seizures. The diagnosis was confirmed in two other independent laboratories. In December 1980 the mother told us she was pregnant and asked for a prenatal diagnosis. Amniotic fluid was obtained for analysis of free amino acids at 18 weeks of gestation. Amino acid analysis was performed by ion-exchange column chromatography. The concentrations were 419 μmol per liter for glycine and 27 μmol per.
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U2 - 10.1056/NEJM198206103062316
DO - 10.1056/NEJM198206103062316
M3 - Letter
C2 - 6804868
AN - SCOPUS:0020479150
SN - 0028-4793
VL - 306
SP - 1425
EP - 1427
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 23
ER -