amylo-1:4,1:6-transglucosidase
Quick Summary
Amylo-1:4,1:6-transglucosidase is an enzyme crucial for synthesizing glycogen. Its absence leads to Andersen's disease, a rare hereditary metabolic disorder. In this condition, an abnormal form of glycogen, called amylopectin, accumulates in tissues like the liver and heart.1
Affected children typically fail to thrive, lose muscle tone, and become lethargic. The liver and spleen enlarge, leading to progressive liver failure and often death before age three due to heart failure or esophageal bleeding. Liver transplants can be successful by providing the necessary enzymes to halt abnormal glycogen accumulation. Andersen's disease is inherited in an autosomal-recessive pattern.1
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