{
  "abstract": "Bile acid synthesis disorders represent a rare subset of cholestatic conditions that, if unrecognised, may progress to end-stage liver disease requiring transplantation. These disorders result from deficiencies in one of the 17 enzymes involved in the conversion of cholesterol into primary bile acids. We present a case series of three first-degree relatives diagnosed with congenital bile acid synthesis defect type 2 (AKR1D1 deficiency), a disorder characterised by impaired steroid 5β-reductase activity. After initiating cholic acid, all patients demonstrated significant clinical improvement.",
  "authors": [
    {
      "affiliations": [
        "Pediatric GI, Orlando Health Arnold Palmer Hospital for Children, Orlando, Florida, USA"
      ],
      "name": "Joanne Thio"
    },
    {
      "affiliations": [
        "Duke University School of Medicine, Durham, North Carolina, USA"
      ],
      "name": "Arun Ajmera"
    },
    {
      "affiliations": [
        "AdventHealth Central Florida, Orlando, Florida, USA"
      ],
      "name": "Jie Ouyang"
    },
    {
      "affiliations": [
        "Pediatric Transplant Hepatology, Miami Transplant Institute, Miami, Florida, USA"
      ],
      "name": "Stefany Hernández Benabe"
    }
  ],
  "title": "Varied phenotypic presentation of congenital bile acid synthesis defect type 2 in a set of first-degree relatives with the same genetic mutation",
  "uid": "06022ebd-8111-572e-9087-a97cf0ca7e2d"
}