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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. The HSD17B4 gene provides instructions for making the D-bifunctional protein. This protein is an enzyme, which means that it helps specific biochemical reactions ...
  3. ... 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, ...
  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 ...