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Neonatal Onset Seizures and Hypotonia Due to D-Bifunctional Protein Deficiency

Sohier Yahia1, Dina Ghozzy1, Yahya Wahba1

  • 1Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Indian Journal of Pediatrics
|May 22, 2025
PubMed

Insights

Medium-chain triglyceride (MCT) formula shows promise for treating D-bifunctional protein deficiency, a rare inherited peroxisomal disorder. This intervention helped manage seizures and improve symptoms in an infant case.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Peroxisomal disorders (PDs) are inherited conditions affecting peroxisomal function.
  • D-bifunctional protein (DBP) deficiency, a type of PD, is linked to HSD17B4 gene mutations and presents as Zellweger-like syndrome.
  • Confirmed cases of DBP deficiency are rare.

Purpose of the Study:

  • To report a case of D-bifunctional protein deficiency in an infant.
  • To investigate the therapeutic potential of medium-chain triglyceride (MCT) formula in managing DBP deficiency symptoms.

Main Methods:

  • Clinical presentation analysis of a 6-month-old female infant with neonatal-onset symptoms.
  • Biochemical analysis including acylcarnitine profile to detect elevated very long-chain fatty acids.
  • Genetic analysis using whole exome sequencing to identify mutations in the HSD17B4 gene.
  • Therapeutic intervention with MCT formula and assessment of its effects.

Main Results:

  • The infant presented with intractable seizures, hypotonia, facial dysmorphia, and hepatomegaly.
  • Acylcarnitine profile indicated elevated very long-chain fatty acids.
  • Whole exome sequencing revealed a homozygous missense mutation (c.1444A>T) in the HSD17B4 gene.
  • MCT formula administration resulted in seizure control, improved muscle tone, and reduced liver size.

Conclusions:

  • This case highlights a potential therapeutic role for MCT-containing formulas in managing D-bifunctional protein deficiency.
  • Early diagnosis and intervention with specialized formulas may improve clinical outcomes in patients with DBP deficiency.

Keywords:
HSD17B4Peroxisomal disorderSeizures

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