CASE REPORT article
Front. Pediatr.
Sec. Neonatology
One Novel HSD17B4 Mutation in Association With D-Bifunctional Protein Deficiency:A case report and Literature Review
Provisionally accepted
- 1department of neonatology, Ganzhou People’s Hospital (The Affiliated Ganzhou Hospital, Jiangxi Medical College, Nanchang University), Ganzhou, China
- 2Department of Neonatology, Southern Medical University Nanfang Hospital, Guangzhou, China
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Background:D-Bifunctional protein,also called D-peroxisomal bifunctional enzyme which is encoded by HSD17B4 gene located in chromosome 5q21,catalyzes the second and third steps of preoxisomal β-oxidation of fatty acids and fatty acid derivatives.When HSD17B4 gene mutations cause varying degrees of decline in DBP function, it can lead to D-Bifunctional protein deficiency(D-BPD) which is a rare autosomal recessive discord.The typical symptoms include hypotonia and seizures. Case Presentation:A 4-day-old female infant was admitted due to recurrent seizures for 3 days. Main clinical manifestations included facial dysmorphism, poor responsiveness, hypotonia, feeding difficulties, refractory seizures, bilateral hearing impairment, and an electroencephalogram (EEG) showing focal sharp waves generalizing to widespread discharges. Whole-exome sequencing revealed a homozygous mutation in the HSD17B4gene originated from her parents: Exon6: c.344A>T (p.Asp115Val), a variant not previously reported.During her hospitalization, she received respiratory support, nasogastric feeding and antiepileptic treatment.One month after discharge, telephone follow-up revealed frequent recurrent seizures, the parents of the patient refused further treatment due to poor prognosis and financial constraints. Conclusions:This article presents a case of a newborn who presented with hypotonia,feeding difficulties and refractory epilepsy shortly after birth, and was eventually diagnosed with D-bifunctional protein deficiency through whole-exome sequencing.The prognosis of this disease is poor, and symptomatic and supportive treatment is the main approach. Therefore,whole-exome sequencing is particularly important for definitive diagnosis when neonates present with generalized hypotonia,feeding difficulties and refractory epilepsy.In addition,a missense mutation (c.344A>T (p.Asp115Val)) is a newly discovered variant that deserve further study.
Keywords: D-bifunctional protein deficiency, HSD17B4, hypotonia, neonate, Seizures
Received: 20 Aug 2025; Accepted: 03 Dec 2025.
Copyright: © 2025 Xiong, Wang, Sun, Zhong, Li, Zeng and Huang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Lu Xiong
Shiqing Wang
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