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3 unusual facts about D-bifunctional protein deficiency


D-bifunctional protein deficiency

Peroxisomal disorders are usually caused by a combination of peroxisomal assembly defects or by deficiencies of specific peroxisomal enzymes.

D-Bifunctional protein deficiency (officially called 17-β-hydroxysteroid dehydrogenase IV deficiency) is an autosomal recessive peroxisomal fatty acid oxidation disorder.

Many mutations have been found in the gene coding for D-BP(HSD17B4)on the q arm two of chromosome five (5q2) in Homo sapiens, most notably individuals homozygous for a missense mutation (616S).



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