Kanzaki disease


A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration


* Telangiectasia * Excess urinary sialylglycoaminoacids * Warty discolorations on skin * Mildly coarse facial features * Mild intellectual impairment


Kanzaki disease are caused by a deficient lysosomal enzyme, alpha-N-acetylgalactosaminidase


Schindler disease Type II (also called Kanzaki disease)