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Titolo:
INHERITED DISORDERS OF FATTY ALCOHOL METABOLISM
Autore:
RIZZO WB;
Indirizzi:
VIRGINIA COMMONWEALTH UNIV,MED COLL VIRGINIA,DEPT PEDIAT,POB 980259 RICHMOND VA 23298 VIRGINIA COMMONWEALTH UNIV,MED COLL VIRGINIA,DEPT HUMAN GENET RICHMOND VA 23298 VIRGINIA COMMONWEALTH UNIV,MED COLL VIRGINIA,DEPT BIOCHEM & MOL BIOPHYS RICHMOND VA 23298
Titolo Testata:
Molecular genetics and metabolism ( Molecular genetics and metabolism (Print))
fascicolo: 2, volume: 65, anno: 1998,
pagine: 63 - 73
SICI:
1096-7192(1998)65:2<63:IDOFAM>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
SJOGREN-LARSSON-SYNDROME; RHIZOMELIC CHONDRODYSPLASIA PUNCTATA; ALDEHYDE DEHYDROGENASE GENE; LONG-CHAIN ALCOHOLS; ALKYL-DIHYDROXYACETONEPHOSPHATE SYNTHASE; RAT-LIVER PEROXISOMES; ZELLWEGER SYNDROME; PTS2 RECEPTOR; ACYL-COA; CULTURED FIBROBLASTS;
Keywords:
FATTY ALCOHOL; SJOGREN-LARSSON SYNDROME; ALKYL DIHYDROXYACETONE PHOSPHATE SYNTHASE; PLASMALOGENS; WAX ESTERS; PEROXISOME; PEROXISOMAL DISORDERS; GENETIC DISEASE; ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS; FATTY ALDEHYDE DEHYDROGENASE;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
99
Recensione:
Indirizzi per estratti:
Citazione:
W.B. Rizzo, "INHERITED DISORDERS OF FATTY ALCOHOL METABOLISM", Molecular genetics and metabolism ( Molecular genetics and metabolism (Print)), 65(2), 1998, pp. 63-73

Abstract

The importance of long-chain aliphatic alcohols to human biology has recently been emphasized by the discovery of several inborn errors of fatty alcohol metabolism. These inherited diseases include isolated defects in the oxidation of fatty alcohol to fatty acid (Sjogren-Larssonsyndrome) and deficient incorporation of fatty alcohol into ether lipids (isolated alkyl dihydroxyacetone phosphate synthase deficiency). In addition, disorders of peroxisomal biogenesis (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease) and peroxisomal protein import (rhizomelic chondrodysplasia punctata) have impaired ether lipid synthesis along with other associated defects in peroxisomal metabolism. All of the inherited disorders of fatty alcohol metabolism are associated with severe neurologic disease, but the contribution of tissue fatty alcohol accumulation to the pathogenesis is not clear. Molecular genetic studies have recently identified many of the disease-causing mutations in these disorders, which should lead to more accurate diagnosis and genetic counseling. Although prenatal diagnosis offers a method for preventing these genetic diseases, no effective therapy exists to alleviate the symptoms. (C) 1998 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 01:07:13