beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum

Ishibashi, A.

doi:10.1001/archderm.120.10.1344

Cited by 7 publications

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“…Angiokeratoma corporis diffusum is one of the most characteristic manifestations of lysosomal storage diseases such as Fabry’s disease, fucosidosis type II [1], GM1 gangliosidosis type I [2], β-mannosidase deficiency [3] and galactosialidosis [4], as well as in patients with normal enzyme activities [5]. Galactosialidosis is a recently identified genetic lysosomal storage disease characterized by the combined deficiency of β-galactosidase and neuramidase activity [6, 7] due to the lack of a 32-kD ‘protective protein’ that is crucial for the biological activity of these two enzymes [8].…”

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confidence: 99%

Angiokeratoma corporis diffusum Associated with Galactosialidosis

et al. 1998

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We describe a 34-year-old Japanese man with generalized angiokeratomas and various neurological symptoms since childhood. A number of reddish papules were scattered over his entire body and were especially numerous on his elbows, knees, penis and scrotum. An electron-microscopic study revealed a number of vacuoles in the cytoplasm of the vascular endothelial cells. This finding suggests that the angiokeratomas resulted from an injury of the endothelial cells due to the storage of metabolic material. A laboratory examination demonstrated a deficiency of both the β-galactosidase and neuramidase activity in his leukocytes and fibroblasts. A restriction site analysis of PCR-amplified genomic DNA revealed that the patient had an mRNA splicing junction mutation at the 5′ donor splice site of the exon 7/intron 7 junction in the protective protein gene.

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Section: Introductionmentioning

confidence: 99%

Angiokeratoma corporis diffusum Associated with Galactosialidosis

et al. 1998

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“…ACD is considered a cutaneous hallmark of Andersone Fabry disease; however, certain other lysosomal storage diseases, including b-mannosidosis, are also characterized by ACD (Table I). [17][18][19][20][21][22][23][24] Ultrastructural examination of these angiokeratomas reveals lysosomal substrate deposition that differs in the fine structural appearance of the respective storage material. In AndersoneFabry disease, electron dense lysosomal granules are observed in the cytoplasm by electron microscopy, whereas in b-mannosidosis storage vacuoles are seen.…”

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confidence: 99%