{
  "abstract": "Background Bile Acid Synthesis Disorders (BASDs) are rare, autosomal recessive causes of progressive cholestatic liver disease in childhood. Early recognition is critical, as timely medical therapy can prevent progression to liver failure and transplantation. We present a case series of children diagnosed and managed at a tertiary paediatric hepatology centre.Methods We retrospectively reviewed clinical, biochemical, and genetic data of children diagnosed with BASD between 2015–2025. Diagnosis was established using urinary bile acid profile analysis and confirmed with targeted genetic testing. Clinical course, management, and outcomes were evaluated.Results Children presented predominantly with cholestasis, hepatomegaly, and varying degrees of coagulopathy and growth impairment. The underlying diagnoses included 3β-hydroxy-Δ 5-C27-steroid oxidoreductase deficiency and Δ4–3-oxosteroid 5β-reductase deficiency, confirmed by urinary bile acid profiling and genetic analysis. All patients received oral cholic acid therapy as first-line treatment. The majority demonstrated significant biochemical and clinical improvement, with resolution of jaundice and normalisation of liver enzymes. A smaller subset progressed to end-stage liver disease requiring transplantation. No deaths occurred during follow-up.Conclusion This series highlights the phenotypic diversity of BASDs and reinforces the importance of early diagnosis using bile acid profiling and molecular testing. Prompt initiation of bile acid replacement therapy can result in significant clinical improvement and may obviate the need for transplantation in many patients.",
  "authors": [
    {
      "affiliations": [
        "Leeds Children’s Hospital"
      ],
      "name": "Salil Pradhan"
    },
    {
      "affiliations": [
        "Leeds Children’s Hospital"
      ],
      "name": "Sanjay Rajwal"
    },
    {
      "affiliations": [
        "Leeds Children’s Hospital"
      ],
      "name": "Palaniswamy Karthikeyan"
    },
    {
      "affiliations": [
        "Leeds Children’s Hospital"
      ],
      "name": "Marumbo Paul Mtegha"
    },
    {
      "affiliations": [
        "Leeds Children’s Hospital"
      ],
      "name": "Kavitha Jayaprakash"
    }
  ],
  "title": "OC38 Bile acid synthesis disorders in children: a case series from a tertiary paediatric hepatology centre",
  "uid": "b00d44c3-9217-5b49-8d06-458f6a7d2c95"
}