Kanzaki, m.E75.2
HistoryThis section has been translated automatically.
Kanzaki et al., 1988
DefinitionThis section has been translated automatically.
Very rare, hereditary storage disease due to the absence of the lysosomal enzyme alpha-N-acetylgalactosaminidase
EtiopathogenesisThis section has been translated automatically.
The clinical picture is very closely related to the angiokeratoma corporis diffusum (Fabry's disease) and differs only slightly in the enzymatic activity of the enzyme alpha-N-acetylgalactosaminidase from that of alpha-galactosidase. This disorder is caused by a mutation of the N-acetyl-alpha-galactosaminidase gene [NAGA] on 22q11.
Clinical featuresThis section has been translated automatically.
Clinically very variable picture from lack of clinic to lymphedema, hearing loss and cardiomegaly. Predominantly normal intelligence. Dermatologically conspicuous is the clinical picture due to the appearance of Angiokeratoma corporis diffusum.
LiteratureThis section has been translated automatically.
- Kanda A et al (2002) Immunelectron microscopic analysis of lysosomal deposits in alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum. J Dermatol Sci 29: 42-48
- Kanzaki, T et al (1988) Clinical and ultrastructural studies of novel angiokeratoma corporis diffusum. Clin Res 36: 377A
- Kanzaki T et al (1989) Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum. Lancet 1: 875-876
- Kodama K et al (2001) A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation. Br J Dermatol 144: 363-368
- Uchino Y (2003) Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. Br J Dermatol 149: 23-29
- Yokota M et al (1995) Histopathologic and ultrastructural studies of angiokeratoma corporis diffusum in Kanzaki disease. J Dermatol 22: 10-18