Morbus KanzakiE75.2

Kanzaki et al, 1988

The first patient with this autosomal recessive disorder, a 46-year-old Japanese woman, presented with diffuse angiokeratoma, mild intellectual impairment and peripheral neuroaxonal degeneration. Transient expression of an alpha-GalNAc construct containing the R329W mutation resulted in the expression of an immunoreactive polypeptide that has no detectable alpha-GalNAc activity. Its accumulation leads to clinically heterogeneous symptoms ranging from asymptomatic individuals to individuals with severe neurological manifestations (Wang AM et al. 1994).

Clinically very variable picture from absent clinic to lymphedema, hearing loss and cardiomegaly. Predominantly normal intelligence. The clinical picture is dermatologically conspicuous due to the occurrence of angiokeratoma corporis diffusum (analogous to Fabry disease).

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