D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant

The D-BPD type III cases profiled in this report exhibit a severe phenotype, which includes dysmorphic facial features, severe hypotonia, and refractory seizures that manifest from birth. One month after the VLCFAs analysis revealed something suggestive of a peroxisomal disorder, a targeted gene panel analysis could confirm the diagnosis.

Authors

Berrak Bilginer Gürbüz (ORCID: https://orcid.org/0000-0002-6197-0647)
Çiğdem Seher Kasapkara (ORCID: https://orcid.org/0000-0002-3569-276X)
Ayşenur Engin Erdal (ORCID: https://orcid.org/0000-0001-6139-6027)
Aynur Küçükçongar Yavaş (ORCID: https://orcid.org/0000-0002-4766-300X)

Institutions

Ministry of Health (TR)
Memorial Ankara Hospital (TR)

Publication Details

Journal: Molecular Syndromology
Published: 2025-03-28
DOI: https://doi.org/10.1159/000545474
Citations: 2
Primary Topic: Diabetes and associated disorders
Type: article
Field-Weighted Citation Impact: 3.63

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article

D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant

Berrak Bilginer Gürbüz, Çiğdem Seher Kasapkara, Ayşenur Engin Erdal, Aynur Küçükçongar Yavaş

Mar 28, 2025

2 citations

Molecular Syndromology

Diabetes and associated disorders

3.63

article

D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant

Berrak Bilginer Gürbüz, Çiğdem Seher Kasapkara, Ayşenur Engin Erdal, Aynur Küçükçongar Yavaş

March 28, 2025article en

2 citations

Abstract

The D-BPD type III cases profiled in this report exhibit a severe phenotype, which includes dysmorphic facial features, severe hypotonia, and refractory seizures that manifest from birth. One month after the VLCFAs analysis revealed something suggestive of a peroxisomal disorder, a targeted gene panel analysis could confirm the diagnosis.

Molecular SyndromologyVol. 17(1)

Ministry of Health (TR), Memorial Ankara Hospital (TR)

Openalex Percentile: Top 9%

Diabetes and associated disorders

3.63

DOI Open Access PDF OpenAlex

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D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant — Berrak Bilginer Gürbüz, Çiğdem Seher Kasapkara, et al. · Molecular Syndromology (2025) | TGRS Research Map | TGRS