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
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
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Bifunctional enzyme deficiency. We will answer your question and update these pages with new resources and information.
- 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.