D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel <i>HSD17B4</i> Gene Variant.

ABSTRACT:

Introduction

Bi-allelic variants in the 17-hydroxysteroid dehydrogenase type 4 gene (HSD17B4) cause the extremely rare autosomal recessive disorder known as peroxisomal D-bifunctional protein deficiency (D-BPD) (#OMIM 261515). This protein mediates hydration and dehydrogenation in the peroxisomal fatty acid β-oxidation pathway. Because of this, very long-chain fatty acids (VLCFAs), branched fatty acids (pristanic acid), and bile acid components cannot be broken down without it. Clinically, it causes developmental delay with neonatal hypotonia, seizures, and dysmorphic features. The D-BPD is divided into four subtypes according to the region affected by the variant causing the disorder.

Case presentation

Two newborns presented with severe hypotonia, intractable seizure

SUBMITTER: Erdal AE 

PROVIDER: S-EPMC12097794 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature