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) |
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Pages (from-to) | 357-360 |
Number of pages | 4 |
Journal | Journal of Pediatric Neurology |
Volume | 6 |
Issue number | 4 |
State | Published - Dec 1 2008 |
Keywords
- D-bifunctional protein
- Novel mutation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology