Characterization of antibodies against ceramidetrihexoside and globoside

Nerve biopsy findings in hemizygous and heterozygous patients with Fabry's disease

“…Perivascular infiltrate similar to the one seen in patient 2 has been found in the sural nerve of another case [2] and in the brain [12]. A patient with periarteritis nodosa-like pathology in his perforating colon has been reported [4] and glycolipids, particularly CTX, are known immunogens [8]. Association of Fabry's disease with immune disorders such as systemic lupus erythematosus [18] or chronic inflammatory syndromes [5] have also been reported.…”

“…An A to G transition at nucleotide position (nt) 3243 in the tRNA Leu (UUR) gene of the mitochondrial DNA, the 3243 mutation, has been found in 80% of MELAS patients [2]. Recently, this mutation has been found in diverse clinical syndromes, including PEO [4], an MERRF/PEO overlap syndrome [10], cluster headache [9], demyelinating polyneuropathy [8], and maternally inherited diabetes and deafness (MIDD) [5]. MIDD is now the most common molecularly defined form of diabetes, with the prevalence being approximately 1.5% of diabetics [3].…”

Kidney Involvement in Systemic Lupus erythematosus and Fabry’s Disease

“…This may have caused abnormal chronic autoantigenic stimulus, similar to that observed in Gau cher's disease. In this regard it has been well established that galactocerebrosides are potential antigens [5].…”

Crescentic Glomerulonephritis in a Patient with Heterozygous Fabry’s Disease

“…Recently, 2 patients with combined Fabry’s disease and pause-immune necrotizing and crescentic GN have been reported [7], but the pathogenic relationship between these two diseases remains unknown. Galactocerebroside that accumulates in Fabry’s disease is reported to be immunogenic and to have the potential to be antigenic [8]. Further, some components of the deposited lipid, such as galactocerebroside, is reported to provide a long-term antigenic stimulus that results in an abnormal proliferation of antibody-forming cells [9].…”