D-bifunctional protein deficiency, a novel mutation

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

doi:10.1055/s-0035-1557474

D-bifunctional protein deficiency, a novel mutation

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

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
DOIs	https://doi.org/10.1055/s-0035-1557474
State	Published - 2008
Externally published	Yes

Keywords

D-bifunctional protein
Novel mutation

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

Access to Document

10.1055/s-0035-1557474

Cite this

@article{e8d86c2df9114702b39de1bf547f32db,

title = "D-bifunctional protein deficiency, a novel mutation",

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",

author = "Dib, {Rania E.} and Pascale Karam and Mikati, {Mohamad A.} and Steven Steinberg and Habbal, {Mohamad Zouhair}",

year = "2008",

doi = "10.1055/s-0035-1557474",

language = "English (US)",

volume = "6",

pages = "357--360",

journal = "Journal of Pediatric Neurology",

issn = "1304-2580",

number = "4",

}

TY - JOUR

T1 - D-bifunctional protein deficiency, a novel mutation

AU - Dib, Rania E.

AU - Karam, Pascale

AU - Mikati, Mohamad A.

AU - Steinberg, Steven

AU - Habbal, Mohamad Zouhair

PY - 2008

Y1 - 2008

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.

KW - D-bifunctional protein

KW - Novel mutation

UR - http://www.scopus.com/inward/record.url?scp=58149380324&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=58149380324&partnerID=8YFLogxK

U2 - 10.1055/s-0035-1557474

DO - 10.1055/s-0035-1557474

M3 - Article

AN - SCOPUS:58149380324

VL - 6

SP - 357

EP - 360

JO - Journal of Pediatric Neurology

JF - Journal of Pediatric Neurology

SN - 1304-2580

IS - 4

ER -

D-bifunctional protein deficiency, a novel mutation

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this