Electronmicroscopic study on biopsied rectal mucosa in adrenoleukodystrophy.
Rectal mucosal biopsies were performed for seven members of five families with adrenoleukodystrophy (ALD). Many histiocytes contained characteristic cytoplasmic lamellar inclusions that were identical to those seen in adrenocortical cells, brain macrophages, and Schwann cells of affected patients. The ultrastructural features were seen in all patients and also in two asymptomatic younger brothers who had presymptomatic ALD according to assay of very-long-chain fatty acids.
D000326:Adrenoleukodystrophy / Q000378:metabolism / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000473:pathology*; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009092:Mucous Membrane / Q000648:ultrastructure; D012007:Rectum / Q000648:ultrastructure*
D005227:Fatty Acids; C017364:hexacosanoic acid; C010210:lignoceric acid