Abstract
Deficiency of D-bifunctional protein causes a severe, Zellweger-like phenotype. Different mutations were found in humans causing the total or partial loss of this enzyme's function. We report a family with severe Zellweger-like syndrome with a typical presentation of neonatal hypotonia and seizures, biochemical evidence of peroxisomal disease, and a novel mutation C.1052T>G (V351G) in a homozygous state.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 357-360 |
| Number of pages | 4 |
| Journal | Journal of Pediatric Neurology |
| Volume | 6 |
| Issue number | 4 |
| Publication status | Published - 2008 |
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Keywords
- D-bifunctional protein
- Novel mutation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology
Cite this
Dib, R. E., Karam, P., Mikati, M. A., Steinberg, S., & Habbal, M. Z. (2008). D-bifunctional protein deficiency, a novel mutation. Journal of Pediatric Neurology, 6(4), 357-360.