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Genetic and Rare Diseases Information Center (GARD)

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Bifunctional enzyme deficiency


Other Names for this Disease
  • 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY
  • D-bifunctional enzyme deficiency
  • DBP deficiency
  • PBFE deficiency
  • Peroxisomal bifunctional enzyme 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.

Overview

D-bifunctional enzyme deficiency (sometimes referred to as pseudo-Zellweger syndrome) is a genetic disorder typically characterized by hypotonia (low muscle tone) and seizures within the first month of life, vision and hearing problems, distinct facial features, and developmental delay. Some children with D-bifunctional enzyme deficiency also go on to develop liver disease and/or a progressive leukodystrophy. Most people who have D-bifunctional enzyme deficiency pass within the first 2 years of life; however, there have been a few reported cases of patients living beyond 2 years of life. Treatment is symptomatic and supportive.[1608] D-bifunctional enzyme deficiency is caused by mutations in the HSD17B4 gene and is believed to be inherited in an autosomal recessive fashion.[1608]
Last updated: 8/27/2009
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Please contact us with your questions about Bifunctional enzyme deficiency. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Bifunctional enzyme deficiency. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Bifunctional enzyme deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY
  • D-bifunctional enzyme deficiency
  • DBP deficiency
  • PBFE deficiency
  • Peroxisomal bifunctional enzyme 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.