17β-hydroxysteroid dehydrogenase type 4 deficiency

an autosomal recessive syndrome clinically similar to cerebrohepatorenal syndrome, caused by mutation in the HSD17B4 gene (locus: 5q2), which encodes D-bifunctional protein (17β-hydroxysteroid dehydrogenase type 4), resulting in deficiency of either or both of the enzyme activities; it is classified into three types on the basis of the missing activity. Called also D-bifunctional protein deficiency.