Normal pregnancy outcome in L‐2‐hydroxyglutaric aciduria

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. T...

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Published in:Journal of inherited metabolic disease 2006-08, Vol.29 (4), p.588-588
Main Authors: Jonckheere, A., Carton, D., Jaeken, J., Gerlo, E.
Format: Article
Language:English
Subjects:
Adult
Brain - pathology
Brain Diseases, Metabolic, Inborn - pathology
Brain Diseases, Metabolic, Inborn - physiopathology
Female
Glutarates - urine
Humans
Infant, Newborn
Magnetic Resonance Imaging
Pregnancy
Pregnancy Complications - physiopathology
Pregnancy Outcome
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container_title Journal of inherited metabolic disease
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creator Jonckheere, A.
Carton, D.
Jaeken, J.
Gerlo, E.
description 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
doi_str_mv 10.1007/s10545-006-0261-8
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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 &lt;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. 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subjects Adult
Brain - pathology
Brain Diseases, Metabolic, Inborn - pathology
Brain Diseases, Metabolic, Inborn - physiopathology
Female
Glutarates - urine
Humans
Infant, Newborn
Magnetic Resonance Imaging
Pregnancy
Pregnancy Complications - physiopathology
Pregnancy Outcome
title Normal pregnancy outcome in L‐2‐hydroxyglutaric aciduria
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