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UCL Great Ormond Street Institute of Child Health

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Inborn Errors of Metabolism

This Section links groups led by international experts who specialise in inherited rare diseases arising from disorders of metabolism and specific organelles, covering the full translational pathway from diagnosis, genotype-phenotype correlation, disease mechanism to therapeutic development. Our aims are to work together to deliver better diagnostics, connect natural history with understanding of the underlying disease mechanism, and develop and monitor the effectiveness of new therapies using accurate disease biomarkers. The section provides a unique interdisciplinary environment that includes powerful mass spectrometry technology platforms to integrate multi-omics data with basic research and clinical application. We work collaboratively with clinicians of GOSH and with colleagues across UCL. With strong links with UK and international colleagues/partners, we engage and partner with patient organisations and regulatory bodies.

We have broad research interests in:

  • Mitochondrial disorders
  • Lysosomal disorders
  • Neurotransmitter disorders
  • Neurological disorders
  • Cardiac diseases

And particularly:

  • Neuronal ceroid lipofuscinoses (Batten disease)
  • Niemann-Pick C disease
  • Vitamin B6-dependent epilepsies
  • Disorders causing hypermanganesemia
  • Congenital disorders of glycosylation
  • Urea cycle defects