Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels.

Ness, G C; Lopez, D; Borrego, O; Gilbert-Barness, E

Ness, G C; Lopez, D; Borrego, O; Gilbert-Barness, E.

Afiliación

Ness GC; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Florida, Tampa 33612, USA.

Am J Med Genet ; 68(3): 294-9, 1997 Jan 31.

Article en En | MEDLINE | ID: mdl-9024562

ABSTRACT

ABSTRACT

We report on an infant girl with severe RSH or Smith-Lemli-Opitz syndrome with hyperbilirubinemia. The infant died at age 2 months. Sterol analysis of liver and brain tissues showed marked elevations of 7-dehydrocholesterol with decreased levels of cholesterol. Immunocytochemical analysis demonstrated remarkable increases in low-density lipoprotein (LDL) receptors in these tissues, indicative of a deficiency in available cholesterol for tissue needs.

Asunto(s)

Bilirrubina/metabolismo; Receptores de LDL/metabolismo; Síndrome de Smith-Lemli-Opitz/metabolismo; Encéfalo/metabolismo; Encéfalo/patología; Deshidrocolesteroles/metabolismo; Femenino; Humanos; Lactante; Hígado/metabolismo; Hígado/patología; Páncreas/patología; Síndrome de Smith-Lemli-Opitz/patología

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Bilirrubina / Receptores de LDL / Síndrome de Smith-Lemli-Opitz Límite: Female / Humans / Infant Idioma: En Revista: Am J Med Genet Año: 1997 Tipo del documento: Article País de afiliación: Estados Unidos

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