Affiliations: Department of Pediatrics, American University of
Beirut Medical Center, Beirut, Lebanon | Peroxisomal Diseases Laboratory, The Kennedy Krieger
Institute, Johns Hopkins University, Baltimore, USA | Department of Pathology and Laboratory Medicine,
American University of Beirut Medical Center, Beirut, Lebanon
Note: [] Correspondence: Dr. Mohamad Zouhair Habbal, Department of
Pathology and Laboratory Medicine, American University of Beirut Medical
Center. P.O. BOX 11-0236 Riad El-Solh, Beirut, 11072020, Lebanon. Fax: +961 1
370845; E-mail: mh03@aub.edu.lb
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.
