D-Bifunctional Protein Deficiency

D-Bifunctional Protein Deficiency (DBP deficiency) is a rare, severe peroxisomal disorder that affects the breakdown of certain fatty acids and the synthesis of bile acids. Peroxisomes are cellular structures that perform various metabolic functions, including the breakdown of very long-chain fatty acids.

The condition typically presents in the newborn period with severe hypotonia (low muscle tone), seizures, and characteristic facial features similar to those seen in Zellweger syndrome. Affected infants often have feeding difficulties, vision and hearing problems, and profound developmental delays.

There are several types of DBP deficiency based on which enzyme function is affected. Type I affects both enzyme activities, while Types II and III affect individual activities. The severity can vary, with some patients having a milder presentation, though the classic form is typically severe with most affected children not surviving beyond the first few years of life.

DBP deficiency is caused by mutations in the HSD17B4 gene, which encodes the D-bifunctional protein enzyme. This enzyme plays essential roles in the peroxisomal beta-oxidation pathway. The condition is inherited in an autosomal recessive pattern, requiring mutations in both copies of the gene.

NutraHacker examines the following gene related to D-Bifunctional Protein Deficiency:

• HSD17B4

For more information about your own genetic profile as related to D-Bifunctional Protein Deficiency, please check out our NutraHacker Carrier Status and Drug Response Report.

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