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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
Summary
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.
- 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.
