Bifunctional enzyme deficiency
Other Names for this Disease
- 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY
- D-bifunctional enzyme deficiency
- D-bifunctional protein deficiency
- DBP deficiency
- PBFE deficiency
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Tests & Diagnosis
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
- 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.