[X-chromosomal adrenoleukodystrophy. A peroxisomal disease important for differential diagnosis in the internal medicine-neurological field].
Clinically, X-chromosomal adrenoleukodystrophy is characterized by a variable neurological symptomatology and non-obligatory adrenocortical insufficiency. The underlying pathogenetic mechanism consists of a disturbance of the peroxisomal metabolism of fatty acids with consecutive accumulation of very long chain fatty acids (VLCFA) in the blood. The diagnosis of this rare condition is important in view of the possibility of special dietary treatment and genetic counseling of the family.
Wagdi
P
P
Medizinische und Neurologische Universitätskliniken, Inselspital Bern.
Meier
C
C
D000326:Adrenoleukodystrophy / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D002420:Cauda Equina / Q000648:ultrastructure; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D008297:Male; D008830:Microbodies / Q000378:metabolism*; D008854:Microscopy, Electron; D008875:Middle Aged; D010375:Pedigree; D014960:X Chromosome
D005227:Fatty Acids
Die X-chromosomale Adrenoleukodystrophie. Eine differentialdiagnostisch wichtige peroxysomale Erkrankung im internistisch-neurologischen Grenzgebiet.