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Results 1 - 4 of 4 for Bifunctional peroxisomal enzyme deficiency
  1. ... the condition. 17-beta-hydroxysteroid dehydrogenase IV deficiency Bifunctional peroxisomal enzyme deficiency DBP deficiency PBFE deficiency Peroxisomal bifunctional enzyme deficiency ...
  2. ... identified in people with peroxisomal acyl-CoA oxidase deficiency. These mutations prevent the peroxisomal straight-chain acyl-CoA oxidase enzyme from breaking down VLCFAs efficiently. As a result, ...
  3. ... keto-reductase D-3-hydroxyacyl-CoA dehydratase D-bifunctional protein, peroxisomal DBP hydroxysteroid (17-beta) dehydrogenase 4 MFE-2 MPF-2 multifunctional protein 2 peroxisomal multifunctional enzyme type 2 peroxisomal multifunctional protein 2 PRLTS1 SDR8C1 ...
  4. ... cases have been described in the medical literature. Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene, which provides instructions for making an enzyme called peroxisomal straight-chain acyl-CoA oxidase. This ...