Kanzaki disease

Common Name(s)

Kanzaki disease

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy ({609241}); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see {609241}) with mild to moderate neurologic manifestations ({2:Desnick and Schindler, 2001}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kanzaki disease" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

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The terms "Kanzaki disease" returned 1 free, full-text research articles on human participants. First 3 results:

Isolation and characterization of major urinary amino acid O-glycosides and a dipeptide O-glycoside from a new lysosomal storage disorder (Kanzaki disease). Excessive excretion of serine- and threonine-linked glycan in the patient urine.
 

Author(s): Y Hirabayashi, Y Matsumoto, M Matsumoto, T Toida, N Iida, T Matsubara, T Kanzaki, M Yokota, I Ishizuka

Journal: J. Biol. Chem.. 1990 Jan;265(3):1693-701.

 

Four major sialo compounds, termed GP-M1, GP-D1, GP-D2, and GP-D3 have been isolated from the urine of a novel glycoprotein storage disorder patient with angiokeratoma corporis diffusum which was discovered by Kanzaki et al. (Kanzaki, T., Yokota, M., Mizuno, N., Matsumoto, Y., and ...

Last Updated: 21 Feb 1990

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