Adrenoleukodystrophy.
The main advances concerning adrenoleukodystrophy have been in the fields of genetics and therapy. Abnormalities in the 'putative gene' reported in 1993 have been confirmed. Mutations in this gene have been demonstrated in all of the 80 adrenoleukodystrophy families studied so far in various parts of the world. The same unusual dinucleotide deletion was present in approximately 20% of families. The remaining deletions involved nearly all parts of the gene and in most instances were unique in each family. There was no correlation between the phenotype and the nature or location of the mutation. Follow-up of patients treated with Lorenzo's Oil suggests that this therapy does not alter the course of the illness in symptomatic patients. However, dietary therapy started before the development of symptoms may reduce the frequency and severity of subsequent neurological disability.
Moser
H W
HW
Kennedy Krieger Institute, Baltimore, Maryland, USA.
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D002872:Chromosome Deletion; D004252:DNA Mutational Analysis; D004042:Dietary Fats, Unsaturated / Q000008:administration & dosage; D004338:Drug Combinations; D004883:Erucic Acids / Q000008:administration & dosage; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009460:Neurologic Examination; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014304:Triolein / Q000008:administration & dosage; D014960:X Chromosome
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D004042:Dietary Fats, Unsaturated; D004338:Drug Combinations; D004883:Erucic Acids; C079420:Lorenzo's oil; D008565:Membrane Proteins; D014304:Triolein