Revisiting D-Bifunctional Protein Deficiency

About this episode

This episode discusses a new international case series on D-bifunctional protein deficiency, highlighting the possibility of survival into adolescence and adulthood.

A new international case series revisits the natural history of D-bifunctional protein deficiency, showing that survival into adolescence and adulthood is possible and that normal VLCFA levels do not exclude the diagnosis. Dr James Nurse speaks with Dr Unai Díaz-Moreno and Dr Spyros Batzios about expanding phenotypes, genotype–phenotype correlations, and the growing role of early genetic diagnosis. From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series U. Diaz-Moreno, et al https://doi.org/10.1002/jimd.70118

People in this episode

Host: Dr James Nurse

Guests: Dr Unai Díaz-Moreno, Dr Spyros Batzios

Topics covered

• D-bifunctional protein deficiency
• genotype-phenotype correlations
• early genetic diagnosis
• natural history
• VLCFA levels

Keywords

• D-bifunctional protein deficiency
• natural history
• VLCFA levels
• genetic diagnosis
• phenotypes

Mentioned in this episode

Organizations: Journal of Inherited Metabolic Disease

Books & works: From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series

More episodes of JIMD Podcasts

• High Glycine, Different Diagnoses · June 9, 2026 · 24 min
• IMD Research Round-Up: Homocystinuria · June 2, 2026 · 42 min
• Metabolic Mysteries: Two adult siblings with liver disease and haematological abnormalities · May 19, 2026 · 6 min
• The Grey Zone in ABCD1 Variant Classification · May 12, 2026 · 33 min
• Metabolic Mysteries: A 57-year-old man with vomiting and worsening confusion · May 5, 2026 · 4 min
• Nizubaglustat in GM2 Gangliosidosis · April 28, 2026 · 23 min