D-bifunctional protein deficiency
Definition:
D-bifunctional protein (DBP) deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. DBP is a homodimeric enzyme with 79-kDa subunits, each of which consists of three functional units. And it catalyzes the second and third steps of peroxisomal beta-oxidation of fatty acids. The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids (VLCFA), 2-methyl branched-chain fatty acids, and the bile acid intermediates (DHCA/THCA). The clinical presentation is very severe, and most affected children die within the first 2 years of life. Virtually all patients present with neonatal hypotonia and seizures.
References:
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[1]. Sacha Ferdinandusse, et al. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol. 2006 Jan;59(1):92-104. [Content Brief]
[2]. Sacha Ferdinandusse, et al. Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. Am J Hum Genet. 2006 Jan;78(1):112-24. [Content Brief]
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