Glycogen Storage Disease: Rare Diseases Day ASK ME ANYTHING

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Anna.Karenina
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As it is Rare Diseases Day next month, I wanted to do an 'ask me anything' to raise awareness about a disease I have called Glycogen Storage Disease Type 0. So ask me anything

Here is a description of what it is:

GSD0 – also called Glycogen Synthesis Deficiency – is caused by an inherited error in the GYS1 or GYS2 enzyme - a defect that prevents the liver from making glycogen. Glycogen is a form of converted glucose (which is what the body converts from food for energy), and is stored in the liver as an energy reserve. Patients with GSD0 cannot make glycogen – a key ingredient the body needs for cognitive processes, movement, breathing, blood sugar regulation, and temperature control. It is a condition that, when poorly managed or severe, can prove fatal.

The most prominent symptom of the disease is hypoglycaemic, which is a medical emergency classified when blood sugar levels fall below 4 mmol/L. Most healthy adults can maintain a stable level between 5 mmol/L and 6.5 mmol.L (depending on how long ago they may have eaten), but a patient with GSD can drop to as low as 1.2, which can catalyse neurological damage. Those suffering a hypoglycemic attack experience symptoms such as unconsciousness/coma, dizziness, weakness and confusion, feeling hungry, a tingling sensation in the fingers or lips, sweating, sometimes even death. Hypo unawareness is particularly frightening; when a GSD patient receives no warning that their blood sugar is too low, they will just collapse suddenly.

When hypoglycemia goes untreated, it can lead to the even more dangerous ketoacidosis. This is when the body has used up its glucose, and starts breaking down fatty acids which produce ketones – high levels of which can cause parts of the body to stop working normally, and cause the blood to become acidic. It is common for GSD0ers to experience this in the morning, after their body has been deprived of glucose overnight, and has the slightly bizarre trigger sign of the sufferer smelling of peardrops or nail vanish remover (but this cannot be smelt by the sufferer, only those around them). In simple terms, high ketones will cause the blood to turn acidic, and is incredibly painful.

Other symptoms include speech difficulties or impediments, postprandial hyperglycemia (high blood sugar after a meal, which can leave the sufferer feeling extremely sick), looking deathly pale, being extremely thin in appearance and short in stature, dark circles under the eyes, painful long-lasting hicups, leukonychia (white spots in the nails), discomfort on the right side of the abdomen, neurological damage or impairment, and muscle weakness or cramps.
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