X-chromosomal adrenoleukodystrophy. a peroxisomal disease important for differential diagnosis in the internal medicine-neurological field
Wagdi, P.; Meier, C.
Schweizerische Medizinische Wochenschrift 120(35): 1247-1252
1990
ISSN/ISBN: 0036-7672 PMID: 2218446 Document Number: 354398
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.