Adrenomyeloneuropathy--clinical and biochemical diagnosis.
Adrenomyeloneuropathy (AMN) is an X-linked storage disease of very-long-chain fatty acids that presents as primary adrenocortical failure combined with spastic paraparesis and peripheral neuropathy. This disorder was diagnosed in three unrelated adult males. Definitive diagnosis was made by finding elevated very-long-chain fatty acids in plasma and skin biopsy samples. Biochemical characterisation of this disease has elucidated its genetics, clarified its relationship with adrenoleukodystrophy of children and other phenotypic variants, and allowed heterozygote identification, accurate genetic counselling and prenatal diagnosis.
D000224:Addison Disease / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics; D010264:Paraplegia / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome
D005227:Fatty Acids