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Diseases

Genetic and Rare Diseases Information Center (GARD)

Bifunctional enzyme deficiency


Other Names for this Disease
  • DBP deficiency
  • D-bifunctional enzyme deficiency
  • Peroxisomal bifunctional enzyme deficiency
  • PBFE deficiency
  • 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

Newline Maker

How is D-bifunctional enzyme deficiency diagnosed?

D-bifunctional enzyme deficiency can be diagnosed based on increased levels of the following: (1) very long-chain fatty acids; (2) α-methyl-branched fatty acids such as pristanic acid and its precusor phytanic acid; and (3) the bile acid intermediates dihydroxycholestanoic acid (DHCA) and trihydroxycholestanoic acid (THCA). Additionally, genetic testing is available for D-bifunctional enzyme deficiency. To locate the names and contact information of laboratories performing genetic testing on D-bifunctional enzyme deficiency, click here to view the laboratories listed through GeneTests and click here for the those laboratories listed through Orphanet.
Last updated: 8/27/2009


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • DBP deficiency
  • D-bifunctional enzyme deficiency
  • Peroxisomal bifunctional enzyme deficiency
  • PBFE deficiency
  • 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.