From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series
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View abstract on PubMed
Summary
This summary is machine-generated.D-bifunctional protein deficiency (DBP-D) is a rare peroxisomal disorder. This study shows survival into adulthood is possible, especially with normal very long-chain fatty acids (VLCFAs), highlighting the need for early genetic testing.
Area Of Science
- Biochemistry
- Genetics
- Neurology
Background
- D-bifunctional protein deficiency (DBP-D) is a rare autosomal recessive peroxisomal disorder.
- Pathogenic variants in HSD17B4 cause DBP-D, with a broad clinical spectrum.
- Limited data exist on long-term outcomes for DBP-D patients.
Purpose Of The Study
- To comprehensively review the clinical, biochemical, neuroimaging, neurophysiological, and genetic data of DBP-D patients.
- To characterize long-term outcomes and identify factors influencing survival and phenotype.
- To expand the understanding of the clinical and genetic landscape of DBP-D.
Main Methods
- Retrospective, multicentre review of 26 DBP-D patients (1982-2024) across UK and Spanish centers.
- Systematic collection of clinical, biochemical, neuroimaging, neurophysiological, and genetic data.
- Literature review to contextualize findings.
Main Results
- High early mortality (77% before age 2), but 3 patients survived beyond 5 years, including one adult.
- Normal or mildly elevated very long-chain fatty acids (VLCFAs) were associated with survival beyond 2 years.
- Neuroimaging varied by severity: polymicrogyria/cysts in neonatal-onset, cerebellar atrophy in later-onset survivors.
- 14 novel HSD17B4 alleles were identified.
Conclusions
- Survival into adulthood is possible in DBP-D.
- Normal or mildly elevated VLCFAs correlate with milder phenotypes and better prognosis.
- Early molecular testing is crucial for diagnosis, prognosis, and management, even with normal VLCFAs.
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