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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
  • D-bifunctional protein deficiency
  • DBP deficiency
  • PBFE deficiency
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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 in the newborn period. Most babies with this condition never gain any developmental skills. Those that do reach early developmental milestones, such as the ability to control head movement, often experience a loss of these skills within a few months. As the condition worsens, individuals may experience increased muscle tone, more severe seizures, and loss of vision and hearing. Most people who have D-bifunctional enzyme deficiency do not survive past the age of 2; however, there have been a few reported cases of patients living beyond 2 years of life. D-bifunctional enzyme deficiency is caused by mutations in the HSD17B4 gene and is believed to be inherited in an autosomal recessive fashion.[1]
Last updated: 8/3/2015

References

  1. D-bifunctional protein deficiency. Genetics Home Reference. April, 2014; http://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency. Accessed 8/3/2015.
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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
  • D-bifunctional protein deficiency
  • DBP deficiency
  • PBFE 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.