D-bifunctional protein deficiency, a novel mutation

Rania E. Dib, Pascale Karam, Mohamad A. Mikati, Steven Steinberg, Mohamad Zouhair Habbal

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)357-360
Number of pages4
JournalJournal of Pediatric Neurology
Volume6
Issue number4
Publication statusPublished - 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.