Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • DBP deficiency
  • D-bifunctional enzyme deficiency
  • Pseudo Zellweger syndrome
  • Peroxisomal bifunctional enzyme deficiency
  • PBFE deficiency
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D-bifunctional protein deficiency
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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]


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More Detailed Information (Found 2 resources)
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    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss D-bifunctional protein deficiency. Click on the link to go to OMIM and review these resources.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss D-bifunctional protein deficiency. Click on the link to view a sample search on this topic.
 
NLM Gateway (Found 1 resource)
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Support Groups (Found 6 resources)
Groups providing a wide range of services, supportive resources, and information

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  • Disease-Specific Organizations

    • United Leukodystrophy Foundation (ULF)
      2304 Highland Drive
      Sycamore IL 60178
      Toll-free: 800-728-5483
      Telephone: 815-895-3211
      Fax: 815-895-2432
      E-mail: office@ulf.org
      Web site: http://www.ulf.org/
  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
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