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Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. [1] Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy , skeletal muscle weakness, and intellectual disability. [ 2 ]
On Monday, Rocket Pharmaceuticals, Inc. (NASDAQ:RCKT) presented long-term safety and efficacy results from the Phase 1 study of RP-A501 in male patients with Danon disease. Danon disease is a rare ...
Tay–Sachs disease was the first of these disorders to be described, in 1881, followed by Gaucher disease in 1882. In the late 1950s and early 1960s, de Duve and colleagues, using cell fractionation techniques, cytological studies, and biochemical analyses, identified and characterized the lysosome as a cellular organelle responsible for ...
Danon disease is hereditary and is inherited in an X-linked dominant pattern. [10] The LAMP2 gene associated with Danon disease is located on the X-chromosome. [5] Since the X-chromosome is one of the two sex chromosomes, females may develop the disease with just one mutation in one of their two copies of the X-chromosome. [11]
The symptoms of both Pompe and Danon diseases are very similar due to a defect in lysosomes. However, in Danon disease, some show abnormal glycogen accumulation, but not all. [15] Progressive proximal skeletal muscle weakness with varied timeline to threshold of functional limitation (early childhood to adulthood).
The Centers for Disease Control and Prevention says that although some low-fat or unsweetened yogurts are low in calories and a healthy source of protein, vitamin D and calcium, flavored yogurts ...
GSD-II and Danon disease are the only glycogen storage diseases characterised by a defect in lysosomal metabolism. It was first identified in 1932 by Dutch pathologist Joannes Cassianus Pompe, making it the first glycogen storage disease to be discovered.
Last night on ABC's Shark Tank, we met Danon Beres from Huntington Beach, California, who makes the Washed Up Hollywood fashion accessories line. His buckles wowed the businessmen, but ironically ...