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Journal of Pediatric Neurology 2008; 06(04): 357-360
DOI: 10.1055/s-0035-1557474
Case Report
Georg Thieme Verlag KG Stuttgart – New York

D-bifunctional protein deficiency, a novel mutation

Rania E. Dib
a   Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon
,
Pascale Karam
a   Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon
,
Mohamad A. Mikati
a   Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon
,
Steven Steinberg
b   Peroxisomal Diseases Laboratory, The Kennedy Krieger Institute, Johns Hopkins University, Baltimore, USA
,
Mohamad Zouhair Habbal
c   Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
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14. November 2007

15. Mai 2008

Publikationsdatum:
30. Juli 2015 (online)

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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.

Keywords

D-bifunctional protein - novel mutation