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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>D-bifunctional protein deficiency is caused by variants (also known as mutations) in the HSD17B4 gene. The protein produced from this gene (D-bifunctional protein) is an enzyme, which means that it helps specific biochemical reactions to take place. The D-bifunctional protein is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. The D-bifunctional protein is involved in the breakdown of certain molecules called fatty acids. The protein has two separate regions (domains) with enzyme activity, called the hydratase and dehydrogenase domains. These domains help carry out the second and third steps, respectively, of a process called the peroxisomal fatty acid beta-oxidation pathway. This process shortens the fatty acid molecules by two carbon atoms at a time until the fatty acids are converted to a molecule called acetyl-CoA, which is transported out of the peroxisomes for reuse by the cell.</p><p>HSD17B4 gene variants that cause D-bifunctional protein deficiency can affect one or both of the protein&#x27;s functions; however, this distinction does not seem to affect the severity or features of the disorder. Impairment of one or both of the protein&#x27;s enzymatic activities prevents the D-bifunctional protein from breaking down fatty acids efficiently. As a result, these fatty acids accumulate in the body. It is unclear how fatty acid accumulation leads to the specific neurological and non-neurological features of D-bifunctional protein deficiency. However, the accumulation may result in abnormal development of the brain and the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Destruction of myelin leads to a loss of myelin-containing tissue (white matter) in the brain and spinal cord; loss of white matter is described as leukodystrophy. Abnormal brain development and leukodystrophy likely underlie the neurological abnormalities that occur in D-bifunctional protein deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/d-bifunctional-protein-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes D-bifunctional protein deficiency?"},{"bodyHtml":"<p>Individuals with D-bifunctional protein deficiency may have unusual facial features, including a high forehead, widely spaced eyes (hypertelorism), a lengthened area between the nose and mouth (philtrum), and a high arch of the hard palate at the roof of the mouth. Affected infants may also have an unusually large space between the bones of the skull (fontanelle). An enlarged liver (hepatomegaly) occurs in about half of affected individuals. Because these features are similar to those of another disorder called Zellweger syndrome (part of a group of disorders called the Zellweger spectrum), D-bifunctional protein deficiency is sometimes called pseudo-Zellweger syndrome.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/d-bifunctional-protein-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"d-bifunctional-protein-deficiency","sourceDocuments":[{"name":"D-bifunctional protein deficiency","reviewed":"2014-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:50.777299+00:00","label":"Causes","pageSha256":"4c6ebb4d27b3726afb64a37edf3a46428acc14d400d6e8b9ef7e6245cfb6b2a6","sourceUrl":"https://medlineplus.gov/genetics/condition/d-bifunctional-protein-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/d-bifunctional-protein-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"D-bifunctional protein deficiency"},"schemaVersion":1}