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Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1

Sommayya Aftab

Sommayya Aftab Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

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Diliara Gubaeva

Diliara Gubaeva Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia

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Jayne A L Houghton

Jayne A L Houghton The Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK

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Antonia Dastamani

Antonia Dastamani Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

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Ellada Sotiridou

Ellada Sotiridou Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

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Clare Gilbert

Clare Gilbert Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

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Sarah E Flanagan

Sarah E Flanagan Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK

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Anatoly Tiulpakov

Anatoly Tiulpakov Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia

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Maria Melikyan

Maria Melikyan Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia

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Pratik Shah

Pratik Shah Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK

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’-triphosphate (GTP) ( 5 , 6 ). Activated mutations in the GLUD1 gene lead to loss of this allosteric inhibition by GTP, which in turn increases leucine-induced glutamate oxidation to alpha-ketoglutarate, resulting in hyperinsulinemic hypoglycaemia ( 7 ). This