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Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.

J Konkoľová1, R Petrovič1, J Chandoga1

  • 1Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University, Faculty of Medicine & University Hospital Bratislava, Mickiewiczova 13, 813 69 Bratislava, Slovakia.

Gene
|May 14, 2015
PubMed
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D-bifunctional protein deficiency, a rare metabolic disorder, presents severe early-life symptoms and is linked to mutations in the HSD17B4 gene. Genetic analysis aids in understanding and diagnosing this condition, enabling prenatal testing.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • D-bifunctional protein deficiency (OMIM 261515) is a rare, autosomal recessive peroxisomal disorder.
  • It affects the beta-oxidation pathway, leading to severe clinical and biochemical abnormalities.
  • The condition is typically fatal within the first few years of life.

Observation:

  • This study details two Slovak patients with D-bifunctional protein deficiency.
  • Clinical presentation included severe hypotonia, depressed neonatal reflexes, craniofacial dysmorphism, and seizures from birth.
  • Both patients exhibited elevated plasma very long-chain fatty acids and died before age two.

Findings:

  • Causative mutations were identified in the HSD17B4 gene in both patients.
  • Patient 1 had a homozygous mutation (c.46G>A) affecting the dehydrogenase domain.
Keywords:
D-bifunctional protein deficiencyHSD17B4 genePeroxisomal β-oxidation of very long chain fatty acids

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  • Patient 2 had rare heterozygous mutations (c.1369A>G and c.1516C>T) impacting the hydratase domain.

    • Implications:

    • Genetic analysis of HSD17B4 mutations is crucial for diagnosing D-bifunctional protein deficiency.
    • Understanding genotype-phenotype correlations aids in predicting disease severity.
    • Identified mutations facilitate genetic counseling and successful prenatal diagnosis for affected families.