D-bifunctional protein deficiency;
DBP deficiency;
Bifunctional enzyme deficiency

Peroxisomal beta-oxidation enzyme deficiency [DS:H00407]

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.

Congenital disorder of metabolism

nt06021  beta-Oxidation in peroxisome

HSD17B4 [HSA:3295] [KO:K12405]

PMID:16385454

Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

Am J Hum Genet 78:112-24 (2006)
DOI:10.1086/498880

PMID:16278854

Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gartner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Ann Neurol 59:92-104 (2006)
DOI:10.1002/ana.20702