D-bifunctional protein deficiency, a novel mutation

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

D-bifunctional protein deficiency, a novel mutation

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

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
State	Published - Dec 1 2008

Keywords

D-bifunctional protein
Novel mutation

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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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.",

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AU - Karam, Pascale

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AU - Steinberg, Steven

AU - Habbal, Mohamad Zouhair

PY - 2008/12/1

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N2 - 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.

AB - 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.

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KW - Novel mutation

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ER -

D-bifunctional protein deficiency, a novel mutation

Abstract

Keywords

ASJC Scopus subject areas

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