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[X-chromosomal adrenoleukodystrophy. A peroxisomal disease important for differential diagnosis in the internal medicine-neurological field].

作者信息

Wagdi P, Meier C

机构信息

Medizinische und Neurologische Universitätskliniken, Inselspital Bern.

出版信息

Schweiz Med Wochenschr. 1990 Sep 1;120(35):1247-52.

PMID:2218446
Abstract

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.

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