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Key Concepts

Glucose-6-Phosphatase Deficiency

This is the primary enzymatic defect in type I glycogen-storage disease (von Gierke disease). Glucose-6-phosphatase is responsible for converting glucose-6-phosphate into free glucose in the liver and kidneys. Its deficiency prevents the final step in both glycogenolysis and gluconeogenesis, leading to an accumulation of glucose-6-phosphate, which eventually drives the synthesis and storage of glycogen in excess.

Glycogen Metabolism

Glycogen metabolism encompasses both the synthesis (glycogenesis) and breakdown (glycogenolysis) of glycogen. In the context of von Gierke disease, the disruption in the normal breakdown pathway due to enzyme deficiency leads to a buildup of intermediates that favor continued glycogen synthesis. This imbalance results in an excessive accumulation of glycogen within the liver and kidneys.

Substrate Accumulation

The accumulation of glucose-6-phosphate, a substrate upstream of the deficient enzyme, not only impairs glucose release but also serves as a signal that drives further glycogen synthesis. With glucose-6-phosphatase unable to process this substrate properly, the surplus is diverted into the glycogen synthesis pathway, thereby exacerbating the accumulation of glycogen in tissues.

Transcript

00:01 Today, students, today we're going to be discussing about the fong -grickon disease in regards to a chapter on glycogen metabolism.

00:12 So about fond -guriken disease or the type 1 glycogen storage disease.

00:23 It was basically discovered by edgar von gricen.

00:27 Sorry if i mispronounce his name and he discovered this back in 1929 i hope that's hope i got the date right and where he studied patients with this disease had like a huge abdomen and it was caused by the massive enlargement of the liver and and there was a pronounced hypergly glycroma glycroma um sorry if i mispronounce that between meals and they brought up how the blood glucose level does not rise on administrative administration of epiphrin or glucong and also for infants with this the glycogen storage disease may have confulsions because of the low blood clucos level.

01:39 So i just list out more things about the type where it affects the liver and the kidney, how it does, like i said, massive enlargement of the liver.

01:54 And also the defective enzyme is where glucose 6 phosphate and the transport.

02:02 System so a little bit more about them is that where when it comes down in this type of situation regarding to the question that we can bring up us that they ask about looking about fond gricken when it comes down to this a abnormality in the high levels we can bring up that the high levels of glucose 6 phosphate and phonicin disease.

02:39 It results in the absence of glucose 6 phosphate or the, that's why i wrote down the deficiency inside would be the glucose 6 phosphate, which is basically transport system.

03:00 Or the transporter would shift the outs outstoric equilibrium of the phosphorrelated glucose synthesis towards the active form...

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