Glycogenosis encompasses a set of inherited diseases characterized by altered metabolism of glycogen in the body tissues, particularly affecting those where it is most needed: muscle and liver.
GSD is the result of a genetic deficiency in any of the genes vinculed to enzymes in the pathways of glycogen metabolism, either for their synthesis or degradation.
Cori described in 1952 the first glycogenosis. In this case it was associated with a deficiency in glucose-6-phosphatase. However, studies about glycogen storaged diseases were expanded until today.
Although symptoms can be varied, depending on the tissue and the physiological state affects the individual, many of the patients may have hypoglycemia, hepatomegaly, metabolic acidosis, growth retardation or developmental inflammatory problems, among others.
One of the classic methods of diagnosing glycogenosis, has been the use of enzyme tests using invasive procedures through tissue biopsy.
However, in recent years due to advances in molecular diagnostic techniques, it is possible to make an early detection of the disease through next generation sequencing (NGS). Thus, it is possible to detect allelic variants associated with glycogen storage disease.
NGS analysis shows a high clinical interest, allowing the molecular confirmation of the disease, and the possibility of testing in patients with mitochondrial diseases or even.
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