Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amiodarone, 2-N-butyl-3-(4'diethylaminoethoxy-3',5-diiodobenzoyl)benzofuran, also known as Cordarone, is presently under clinical investigation in the United States. It is an alpha and beta antagonist and is extremely effective in treating otherwise uncontrollable ventricular arrhythmias. To date, 27 patients participating in our ongoing study since 1977 have had corneal deposits. The deposits are in the corneal epithelium basal cell layer, and occur in stages (mild, moderate, and severe), which seem to correlate with dosage and duration of treatment. Vision is rarely diminished by these deposits, and if it is, discontinuation of the drug therapy will cause regression of the deposits with eventual return to normal beginning within two to four weeks but possibly taking as long as 1 1/2 years. The deposits look similar to those seen in chloroquine toxicity and Fabry's glycolipidosis. Other adverse effects reported in the European literature include thyroidopathy, cutaneous pigmentation, and neuromyopathy.
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PMID:Amiodarone-induced corneal deposits. 649 23

Amiodarone (Cordarone) is an iodinated cardiac antiarrhythmic drug that causes a slate-gray discoloration of the sun-exposed skin and a yellow-brown stippling of the cornea. Histopathologically, biopsy specimens of aminodarone pigmentation sites disclose yellow-brown refractile granules in the reticular dermis. These granules were characterized by transmission electron microscopy as being concentrically arranged intralysosomal inclusions ("myelinlike" bodies) in dermal endothelial cells and perivascular smooth-muscle cells. Electron probe x-ray analysis of these same inclusions disclosed definite peaks for iodine, evidence for the presence of amiodarone or a metabolite of the drug at these sites. Amiodarone, then, concentrates in lysosomes and causes an accumulation of lipids similar to what has been seen with other cationic amphiphilic compounds, such as the glycosphingolipid stored in Fabry's disease. Amiodarone must be recognized as a cause of a drug-induced lipid storage disease with cutaneous and corneal manifestations.
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PMID:Cutaneous pigmentation secondary to amiodarone therapy. 663 12