A glycogen storage disease (also
called glycogen storage disease) is any illness related to inborn errors of
metabolism, resulting from enzyme deficiencies that affect the processing of
glycogen synthesis or breakdown in your muscles efígado.
In the 70 patients with glycogen
storage disease had an increased mortality and permanent neurological damage
with great delay in mental development and growth. Current treatment has
significantly changed the clinical course, and there was dramatic improvement
of prognosis in patients with glycogen storage disease type I, with a life
expectancy exceeding the third decade.
Types
There are nine diseases that are
generally regarded as glycogenosis. (Although the deficiency of the enzyme
glycogen synthase does not result in an excess of glycogen stores in the liver,
it is usually classified along with glycogenosis type as "0" because
it is another defect in glycogen storage and can cause similar problems.)
Number enzyme deficient Eponym
Glycogen storage disease type I
glucose-6-phosphatase
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