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D-bifunctional protein deficiency (DBPD)
Epidemiology: rare
Pathology:
1) polymicrogyria
2) fontanels large
3) replacement of the entire adrenal cortex with a single type of lipid-containing 'balloon' cell
Genetics:
- caused by defects in HSD17B4 gene
Clinical manifestations:
1) neonatal adrenoleukodystrophy
2) hypotonia & macrocephaly at birth
3) development of seizures
4) post-natal ventilatory support
5) necrotizing enterocolitis
6) death in 1st year of life
Laboratory:
- HSD17B4 gene mutation
Special laboratory:
1) normal levels of serum phytanic acid and L-pipecolic acid
2) normal plasmalogen synthesis in cultured fibroblasts
3) electron microscopy:
- peroxisomes are present in tissues
4) immunoblot studies of peroxisomal beta-oxidation enzymes shows deficiency of HSD17B4
5) mRNA coding for the bifunctional enzyme present in fibroblasts
6) EEG abnormalities
7) brain biopsy
General
enzyme deficiency
Database Correlations
OMIM 261515
References
OMIM :accession 261515