Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies

Angiokeratoma Corporis Diffusum in a Patient With No Recognizable Enzyme Abnormalities

“…[3][4][5][6][7][8] Angiokeratoma corporis diffusum is now known to occur in several other diseases related to deficiencies of enzymes that are involved in the metabolism of glycoproteins, including fucosidosis, 9 sialidosis, mannosidosis, 10 GM1 gangliosidosis, and Kanzaki disease. [11][12][13][14] Very rarely, ACD has been reported in patients with normal enzyme activity. [15][16][17][18][19][20][21][22][23][24][25] We report such a case not only with normal enzyme activity but also without evidence of any underlying systemic abnormalities.…”

Three dimensional structural studies of α-N-acetylgalactosaminidase (α-NAGA) in α-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in α-NAGAs resulting in different substrate specificities and clinical phenotypes

“…The accumulation of GalNAca1-OSer in addition to GalNAca1-O-Thr in the R329W mutant may result in the more severe phenotype. Clinically, the patient with R329W mutation manifested more prominent angiokeratomas and lower IQ compared to the patient with R329Q (Table 1) [5,9].…”

“…Although the mutation was on the same codon in both patients, they manifested different clinical phenotypes. Angiokeratoma corporis diffusum, a dermatological sign of Kanzaki disease, was milder in the patient with the R329Q mutation compared to the patient with R329W [5,9]. While the patient with R329W manifested somewhat slow psychomotor activity and an IQ of 70, the patient with R329Q had an IQ of 112 [5,9].…”

“…She presented with severe angiokeratoma, her IQ was 70 [1,4,8,9]. Patient two was a 47-year-old woman with the R329Q mutation.…”

Angiokeratoma corporis diffusum in human β-mannosidosis: Report of a new case and a novel mutation

“…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.…”