caa a22 4500 46793360X CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0261-8 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0261-8 Normal pregnancy outcome in L-2-hydroxyglutaric aciduria [Elektronische Daten] [A. Jonckheere, D. Carton, J. Jaeken, E. Gerlo] L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare progressive neurometabolic disease, defined as a characteristic clinical and radiological entity, mainly including mental retardation, cerebellar dysfunction and involvement of the subcortical white matter, cerebellum and basal ganglia on brain MRI. The biochemical hallmark is an increased urinary excretion of L-2-hydroxyglutaric acid. Management is only supportive. A child born to a Turkish mother in whom L-2-HGA was previously diagnosed is reported. Although pregnancy was repeatedly advised against because of the important degree of mental retardation and the potential risk of a toxic effect on the embryo and/or fetus (at that time no reports of maternal L-2-HGA were available), she became pregnant at 30 years of age and the pregnancy passed uneventfully. On amniocentesis, performed at 5 months of gestational age, elevated 2-hydroxyglutarate, previously shown to be almost exclusively the L-2-stereoisomer, was present in the amniotic fluid: 27.5μ mol/L (controls <1.3; n=5). The child, not affected by the disease as shown by a normal urinary excretion of 2-hydroxyglutaric acid, was normal at birth. When last examined at the age of 3 years, both somatic and mental development were excellent. As the pathogenesis of the extensive brain damage in affected persons remains largely unknown, notwithstanding the recent identification of the mutated gene and the deficient enzyme, one can only speculate on the mechanism by which embryo and fetus from a L-2-HGA mother are spared, at least in this case. SSIEM and Springer, 2006 Jonckheere A. Department of Pediatrics, Ghent University Hospital, Ghent, Belgium aut Carton D. Department of Pediatrics, Ghent University Hospital, Ghent, Belgium aut Jaeken J. Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium aut Gerlo E. Department of Clinical Chemistry, Free University of Brussels, Brussels, Belgium aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 588-588 0141-8955 29:4<588 2006 29 10545 https://doi.org/10.1007/s10545-006-0261-8 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0261-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Jonckheere A. Department of Pediatrics, Ghent University Hospital, Ghent, Belgium aut NATIONALLICENCE 700 1- Carton D. Department of Pediatrics, Ghent University Hospital, Ghent, Belgium aut NATIONALLICENCE 700 1- Jaeken J. Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium aut NATIONALLICENCE 700 1- Gerlo E. Department of Clinical Chemistry, Free University of Brussels, Brussels, Belgium aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 588-588 0141-8955 29:4<588 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer