Adrenoleukodystrophy.
X-linked adrenoleukodystrophy (ALD) is a disorder of very long chain fatty acid (VLCFA) metabolism that can be diagnosed by demonstrating increased levels of VLCFA in plasma and, prenatally, by similar assays in cultured amniocytes or chorionic vilus samples. ALD causes Addison disease frequently in men and occasionally in women. Prompt diagnosis is important for genetic counseling and for the institution of therapies aimed to prevent or ameliorate the progressive neurologic disability that often is associated with this illness.
Moser
H W
HW
Kennedy Institute for Handicapped Children, Baltimore, Maryland.
Bergin
A
A
Naidu
S
S
Ladenson
P W
PW
D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D004702:Endocrine Glands / Q000503:physiopathology; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D014960:X Chromosome
D005227:Fatty Acids