title: Familial X-linked Addison disease as an expression of adrenoleukodystrophy (ALD): elevated C26 fatty acid in cultured skin fibroblasts.
abstract: Adrenoleukodystrophy (ALD) is a fatal X-linked disorder of very long chain fatty acid (VLCFA) metabolism manifested by disease of the central and peripheral nervous systems and the adrenals. X-linked Addison disease alone, as an expression of ALD, has not been previously reported. We present the results of our study of a unique family among whom clinically apparent Addison disease without neurologic involvement has occurred in affected males, and spastic paraparesis has occurred in female carriers. The presence of ALD was confirmed by VLCFA determination in cultured skin fibroblasts. A comparison group of patients with Addison disease on a putative immunopathogenic basis was normal.
mesh_terms: D000224:Addison Disease / Q000235:genetics* / Q000378:metabolism; D000293:Adolescent; D000307:Adrenal Gland Diseases / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D000368:Aged; D002493:Central Nervous System Diseases / Q000235:genetics* / Q000378:metabolism; D002648:Child; D003711:Demyelinating Diseases / Q000235:genetics* / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000378:metabolism; D012867:Skin; D014960:X Chromosome
chemical_list: D005227:Fatty Acids