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Problems of prenatal diagnosis of non‐ketotic hyperglycinaemia
Author(s) -
Wendt L. V.,
Similä S.,
Ruokonen A.,
HartikainenSorri A. L.
Publication year - 1983
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800740
Subject(s) - hyperglycinemia , prenatal diagnosis , medicine , fetus , amniotic fluid , obstetrics , pregnancy , pediatrics , glycine , gynecology , amino acid , biology , genetics
Non‐ketotic hyperglycinaemia (NKH) is a rare disorder of amino acid metabolism, causing severe, frequently lethal neurological symptoms in the neonatal period. There is no curative therapy, and attempts at prenatal diagnosis have been unsuccessful. In the present study the usefulness of the determination of the glycine/serine ratio in the prenatal diagnosis of NKH was studied. The glycine/serine ratio of the amniotic fluid of the last trimester of pregnancies with a fetus affected with NKH was higher (8.5 ± 3.3; mean ± SD) than in pregnancies of NKH‐heterozygote mothers with a healthy fetus (4.1 ± 1.7) or than in pregnancies of healthy mothers (4.3 ± 1.5). There is, however, overlapping of individual values, which limits the usefulness of this test for prenatal diagnosis of NKH.