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sandhoff disease

Medical Definition

Autosomal inherited disease caused by deficiency of the enzymes hexosaminidase a and b which leads to an accumulation of gm2 ganglioside and the sphingolipid globoside in neurons and other organs; clinical manifestations resemble tay-sachs disease.

Wikipedia Summary

Sandhoff disease is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, and some oligosaccharides...
Related Codes (1)
Code
Description
Billable
Details
E75.01Sandhoff disease

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