Accumulation of glycosphingolipids in spinal and sympathetic ganglia of a symptomatic heterozygote of Fabry's disease.
Fabry's disease is an X-linked disorder of glycolipid catabolism. We have found a symptomatic heterozygous female with cardiomyopathy and severe pain in the extremities. We studied histochemically and biochemically the accumulated glycolipids in spinal and sympathetic ganglia of the patient. Histochemical examination demonstrated the marked glycolipid deposits that have been observed in heterozygous males in these ganglia. Gas-liquid chromatography (GLC) revealed that these accumulated glycolipids were characterized as globotriaosylceramide (Gb3cer) and galabiosylceramide (Ga2cer). In the heterozygous female, the accumulations of Gb3cer in spinal and sympathetic ganglia were, respectively, 34 and 48 times the amount in normal controls. This is the first report on quantitative and qualitative analyses of the accumulated glycolipids in spinal and sympathetic ganglia of a heterozygous carrier female.
Hozumi
I
I
Department of Neurology, Brain Research Institute, Niigata University, Japan.
Nishizawa
M
M
Ariga
T
T
Inoue
Y
Y
Ohnishi
Y
Y
Yokoyama
A
A
Shibata
A
A
Miyatake
T
T
D000795:Fabry Disease / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005727:Ganglia, Spinal / Q000378:metabolism* / Q000473:pathology; D005728:Ganglia, Sympathetic / Q000378:metabolism* / Q000473:pathology; D006028:Glycosphingolipids / Q000378:metabolism*; D006801:Humans; D008875:Middle Aged
D006028:Glycosphingolipids