Adrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oil.
Knowledge about adrenoleukodystrophy (ALD), a disorder which was described first in 1923, has increased greatly during recent years. The principal biochemical abnormality, the presumed enzyme defect, and the gene defect, have been defined. A dietary therapy has been proposed and attracted world-wide attention through a motion picture. Nevertheless, many questions remain and cannot be answered without a more fundamental understanding of pathology and pathogenesis. This article will provide a review of the history, clinical features, pathology, biochemistry, and the gene defect, and then appraise current efforts to clarify pathogenesis and develop therapeutic approaches.
Moser
H W
HW
Kennedy Krieger Institute, Baltimore, MD, USA.
Powers
J M
JM
Smith
K D
KD
D002675:Child, Preschool; D004042:Dietary Fats, Unsaturated / Q000627:therapeutic use*; D004338:Drug Combinations; D004883:Erucic Acids / Q000627:therapeutic use*; D006801:Humans; D018901:Peroxisomal Disorders / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D014304:Triolein / Q000627:therapeutic use*
D004042:Dietary Fats, Unsaturated; D004338:Drug Combinations; D004883:Erucic Acids; C079420:Lorenzo's oil; D014304:Triolein