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<p>Peroxisomal disorders (PDs) are a diverse group of inherited conditions arising from impaired function of a specific peroxisomal enzyme, metabolite transporter, or defect in the peroxisome biogenesis system. Peroxisomal D-bifunctional protein (DBP) deficiency is generally classified as a Zellweger-like syndrome. This disorder is caused by mutations in the <i>HSD17B4</i> gene, and only a limited number of confirmed cases have been reported to date.</p><p>The authors report case of a 6-mo-old female infant presenting with neonatal-onset intractable seizures, characteristic facial features, hypotonia, and progressive hepatomegaly. An acylcarnitine profile revealed elevated very long-chain fatty acids, prompting the initiation of a medium-chain triglyceride (MCT) formula. Remarkably, this treatment led to seizure control, improved muscle tone, and a reduction in liver size. Whole exome sequencing identified a homozygous missense mutation in the <i>HSD17B4</i> gene (c.1444A&gt;T).</p><p>This case suggests that MCT-containing formulas may offer therapeutic potential in the treatment of D-bifunctional protein deficiency.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月22日

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  • Sohier Yahia,
  • Dina Ghozzy,
  • Yahya Wahba,
  • Zahraa Abdelmoneim

摘要

Peroxisomal disorders (PDs) are a diverse group of inherited conditions arising from impaired function of a specific peroxisomal enzyme, metabolite transporter, or defect in the peroxisome biogenesis system. Peroxisomal D-bifunctional protein (DBP) deficiency is generally classified as a Zellweger-like syndrome. This disorder is caused by mutations in the HSD17B4 gene, and only a limited number of confirmed cases have been reported to date.

The authors report case of a 6-mo-old female infant presenting with neonatal-onset intractable seizures, characteristic facial features, hypotonia, and progressive hepatomegaly. An acylcarnitine profile revealed elevated very long-chain fatty acids, prompting the initiation of a medium-chain triglyceride (MCT) formula. Remarkably, this treatment led to seizure control, improved muscle tone, and a reduction in liver size. Whole exome sequencing identified a homozygous missense mutation in the HSD17B4 gene (c.1444A>T).

This case suggests that MCT-containing formulas may offer therapeutic potential in the treatment of D-bifunctional protein deficiency.