glycogen storage disease

or glycogenosis

Any of numerous types of hereditary enzyme deficiency resulting in altered metabolism of glycogen. The problems are classified in two groups, those affecting the liver and those involving striated muscle, both primary glycogen storage sites. Symptoms in the liver group range from symptomatic hypoglycemia with ketosis to asymptomatic liver enlargement (hepatomegaly). In the muscle group, they range from weakness and cramps to fatal heart enlargement.

A University of Southern California graduate, she first began her life of scientific creativeness in 1970, when her son Jason was diagnosed with a rare genetic liver disorder, Glycogen Storage Disease (GSD), a devastating disease that interferes with the body's normal process of metabolizing carbohydrates.

India Issues First Patents to USA Inventor: Suzanne Jaffe Stillman ... by Business Wire

A University of Southern California graduate, she first embarked on her life of scientific creativeness in 1970, when her son Jason was diagnosed with a rare genetic liver disorder, Glycogen Storage Disease (GSD), a devastating disease that interferes with the body's normal process of metabolizing carbohydrates.

China Issues First Patents to USA Inventor: Suzanne Jaffe Stillman ... by Business Wire

is a national campaign promoting genetic testing for the following diseases: Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia type c, Gaucher Disease, Glycogen Storage Disease Type 1A, Maple Syrup Urine Disease, Mucolipidosis IV, Type A Niemann-Pick Disease, and Tay-Sachs Disease.

One Test Offers 11 Answers with New Genetic Disease Carrier Screening ... by Business Wire

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