Clinical and biochemical spectrum of D‐bifunctional protein deficiency

• DOI: 10.1002/ana.20702
• Publication Date: 2005-11-16T18:53:30Z
• Authors: Sacha Ferdinandusse; Simone Denis; Petra A. W. Mooyer; Conny Dekker; Marinus Duran; Roelineke J. Soor...; Eugen Boltshauser; Alfons Macaya; Jutta Gärtner; Charles B. L. M. ...; Peter G. Barth; Ronald J. A. Wanders; Bwee Tien Poll‐The
• Keywords: Phosphofructokinase 2; Peroxisomal disorder

D-bifunctional protein deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. Although case reports and small series patients have been published, these do not give a complete balanced picture the clinical biochemical spectrum associated with this disorder.To improve early recognition, diagnosis, prognosis, management disorder to provide markers for life expectancy, we performed extensive studies in large cohort protein-deficient sent out questionnaires about signs symptoms responsible physicians.Virtually all children presented neonatal hypotonia seizures died within first 2 years without achieving any developmental milestones. However, our cohort, 12 survived beyond age years, detailed information on 5 prolonged survival (> or =7.5 years) provided.Biochemical analyses showed that there clear correlation between several parameters patient, C26:0 beta-oxidation activity cultured skin fibroblasts being best predictive marker expectancy. Remarkably, three were identified abnormalities plasma, stressing cannot be excluded when plasma are normal.