genetic disorder

  1. Yann04

    Hypoglycaemia following physical exercise in a patient with novel SLC16A1 variant, 2024, Frampton et al

    Abstract: Rare defects in the promoter region of SLC16A1,the gene encoding monocarboxylate transporter 1 (MCT-1), result in exercise-induced hyperinsulinism. In this disorder inappropriate insulin secretion is triggered by anaerobic exercise with consequent hypoglycaemia. We describe the case...
  2. Hoopoe

    Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 .. severe fatigue, 2023, Oakley et

    Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of unexplained severe fatigue Abstract Background Causative genetic variants cannot yet be found for many disorders with a clear heritable component, including...
    • Hoopoe
    • Thread
    • differential diagnosis genetic genetic disorder genomics neurosteroid progesterone structural variant
    • Replies: 12
    • Forum: ME/CFS research
  3. John Mac

    Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland, 2023, Wright et al.

    BBC: Thousands of children with severe developmental disorders have finally been given a diagnosis, in a study that found 60 new diseases. Children, and their parents, had their genetic code - or DNA - analysed in the search for answers to their condition. There are thousands of different...
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