What is the role of the enzyme alpha-Galactosidase A in the human body, and its deficiency associated disease?
Explanation
The enzyme alpha-Galactosidase A is involved in breaking down fatty acids, specifically globotriaosylceramide. Its deficiency leads to Fabry disease, a genetic disorder that results in the accumulation of this fatty substance in the body.
Mnemonic
Alpha-Gal = Alpha-Galactosidase, Fabry = Fatty Acid Breakdown
Source
NCBI Gene Review











