Glutaric aciduria type 1 (GA1) is an organic acidaemia. The objective of this study was to describe the profile of patients diagnosed with GA1 at Inkosi Albert Luthuli Central Hospital, Durban, South Africa from 2007 to 2015. We identified 6 children (4 girls, 2 boys) in a retrospective review. The mean age at diagnosis was 12 months. Clinical findings on presentation were encephalopathic crise...

We developed a simple and sensitive stable-isotope dilution method for the quantification of 3-hydroxyglutaric acid (3HGA) and glutaric acid (GA) in body fluids. In our method, tertbutyldimethylsilyl derivatives of 3HGA and GA were measured with a conventional electron-impact ionization mode in gas chromatography-mass spectrometry. The control values for 3HGA in nmol/ml were 0.15 ± 0.08 (serum;...

To cite: Biswas A, Furruqh F, Thirunavukarasu S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2016-215753 DESCRIPTION A 7-month-old male child (patient 1) was referred for a CT of the brain for evaluation of macrocephaly. His head circumference was 48 cm (>95th centile). He was otherwise normal and his developmental milestones were normal for age. The C...

Patients affected by inborn errors of metabolism can develop catastrophic epilepsies ineligible for resective surgery. Few reports concerning vagal nerve stimulation in patients with epileptic encephalopathy in the context of metabolic diseases have been published in the literature. Drug-resistant epilepsies in metabolic disease could be a specific target for vagal nerve stimulation, although t...

trans-Glutaconic acid (tGA) is an unsaturated C5-dicarboxylic acid which may be found accumulated in glutaric aciduria type I, whose pathophysiology is still uncertain. In the present work it was investigated the in vitro effect of increasing tGA concentrations on neurochemical and oxidative stress parameters in rat cerebral cortex. We observed that Na(+), K(+)-ATPase activity was reduced by tG...