The enzyme deficiency causes the intralysosomal accumulation of glycosphingolipids. The affected hemizygotes manifest acroparethesis, angiokeratoma, hypohidrosis, corneal opacities, and progressive vascular diseases of the kidney, heart, and brain. The human a-Gal A cDNA (Bishop et al., 1986) and ge
Two novel mutations in the α-galactosidase gene in Japanese classical hemizygotes with Fabry disease
✍ Scribed by Toshika Okumiya; Toshihiro Takenaka; Satoshi Ishii; Ryoichi Kase; Sachiko Kamei; Hitoshi Sakuraba
- Publisher
- Nature Publishing Group
- Year
- 1996
- Tongue
- English
- Weight
- 925 KB
- Volume
- 41
- Category
- Article
- ISSN
- 1435-232X
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Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of a-galactosidase A. The molecular defects of human a-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the ge
Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal; EC 3.2.1.22). In the past, it has been difficult to give an unequivocal diagnosis of carrier status in Fabry disease because of the overlap between normal and heterozygote enzyme lev
We found a novel acceptor splice site mutation in the invariant AG of intron 6 of a-galactosidase A (a-Gal A) gene (IVS6-1G->A) in a patient with Fabry disease by sequencing of genomic DNA. Sequencing of RT-PCR revealed the deletion of first base pair (c909del) of exon 7 in mRNA and a frameshift res