Problems of prenatal diagnosis of non‐ketotic hyperglycinaemia
- 27 January 1983
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 6 (3), 112-113
- https://doi.org/10.1007/bf01800740
Abstract
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.Keywords
This publication has 8 references indexed in Scilit:
- Non‐ketotic hyperglycinaemia — A review of 70 patientsJournal of Inherited Metabolic Disease, 1982
- Prenatal Diagnosis of Nonketotic HyperglycinemiaNew England Journal of Medicine, 1982
- Prenatal Brain Damage in Nonketotic HyperglycinemiaArchives of Pediatrics & Adolescent Medicine, 1981
- Failure of Strychnine Treatment during the Neonatal Period in Three Finnish Children with Nonketotic HyperglycinemiaPediatrics, 1980
- Hydrogen carrier protein from chicken liver: Purification, characterization, and role of its prosthetic group, lipoic acid, in the glycine cleavage reactionArchives of Biochemistry and Biophysics, 1979
- Neonatal Non-Ketotic Hyperglycinemia a Clinical, Biochemical and Neuropathological Study Including Electronmicroscopic Findings1Neuropediatrics, 1979
- AMINO ACID COMPOSITION OF AMNIOTIC FLUID IN INTRAHEPATIC CHOLESTASIS OF PREGNA4NCY, PRE‐ECLAMPSIA AND RHESUS INCOMPATIBILITYBJOG: An International Journal of Obstetrics and Gynaecology, 1975
- Mechanism of the Reversible Glycine Cleavage Reaction in Arthrobacter globiformisThe Journal of Biochemistry, 1974