Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy.
Adrenoleukodystrophy (ALD) is an X-linked recessive disorder that affects mainly the nervous system white matter and the adrenal cortex. It is associated with an abnormal accumulation of saturated very long chain fatty acids and can be diagnosed by demonstrating an excess of these substances in plasma or red cells. Our laboratory has identified more than 900 hemizygotes and 1,000 heterozygotes. Approximately 50% of the hemizygotes have a rapidly progressive childhood or adolescent form of the disease. Twenty-five percent of males have a slowly progressive paraparesis in adulthood, but often are not diagnosed correctly. The illness may also present as Addison disease without apparent neurological involvement. Approximately 15% of heterozygotes develop moderately severe spastic paraparesis. It is important to diagnose ALD promptly because of the urgent need for genetic counseling and the availability of promising therapeutic interventions.
Moser
H W
HW
Kennedy Institute, Baltimore, Md.
Moser
A B
AB
Naidu
S
S
Bergin
A
A
D000224:Addison Disease / Q000209:etiology; D000293:Adolescent; D000311:Adrenal Glands / Q000503:physiopathology; D000326:Adrenoleukodystrophy / Q000145:classification / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D001921:Brain / Q000503:physiopathology; D002648:Child; D003066:Coenzyme A Ligases / Q000172:deficiency / Q000235:genetics; D003071:Cognition; D005188:False Negative Reactions; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D010291:Paresis / Q000209:etiology; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology; D010641:Phenotype; D015995:Prevalence; D011379:Prognosis; D012737:Sex Factors; D013116:Spinal Cord / Q000473:pathology
D005227:Fatty Acids; D003066:Coenzyme A Ligases; C044125:lignoceroyl-CoA ligase