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• Congenital bile acid synthesis defect, type 2
  ...produced from cholesterol in a multi-step process. The 3-oxo-5-β-steroid 4-dehydrogenase enzyme is responsible for the third step in that process, '''which converts AKR1D1 gene mutations result in a 3-oxo-5-β-steroid 4-dehydrogenase enzyme with severely reduced function. Without enough functional enzyme, th
  6 KB (911 words) - 13:06, 26 July 2020
• Medical-dictionary-0-9
  * [[17β-Hydroxysteroid dehydrogenase III deficiency]] * [[2 methylbutyryl coa dehydrogenase deficiency]]
  14 KB (1,362 words) - 02:37, 5 November 2023