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
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mutations in the HSD17B4 gene and is believed to be inherited in an autosomal recessive fashion.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. D-bifunctional enzyme deficiency is caused by
Last updated: 8/27/2009
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- Genetics Home Reference (GHR) contains information on Bifunctional enzyme deficiency. This website is maintained by the National Library of Medicine.
- 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.