Hi all,
As next month is Rare Diseases Day, I thought I’d do an AMAto raise awareness for my disease: Glycogen Storage Disease Type 0. So ask meanything J
This is a brief description of the condition:
GSD0 – also called GlycogenSynthesis Deficiency – is caused by an inherited error in the GYS1 or GYS2enzyme - a defect that prevents the liver from making glycogen. Glycogen is aform of converted glucose (which is what the body converts from food forenergy), and is stored in the liver as an energy reserve. Patients with GSD0cannot make glycogen – a key ingredient the body needs for cognitive processes,movement, breathing, blood sugar regulation, and temperature control. It is acondition that, when poorly managed or severe, can prove fatal.
The most prominent symptom ofthe disease is hypoglycaemic, which is a medical emergency classified whenblood sugar levels fall below 4 mmol/L. Most healthy adults can maintain a stablelevel between 5 mmol/L and 6.5 mmol.L (depending on how long ago they may haveeaten), but a patient with GSD can drop to as low as 1.2, which can catalyseneurological damage; for example, my average blood sugar before hypoglycemia isonly slightly above the ‘safe hypo margin’ at a 4.3 mmol/L. Those suffering ahypoglycemic attack experience symptoms such as unconsciousness/coma,dizziness, weakness and confusion, feeling hungry, a tingling sensation in thefingers or lips, sweating, sometimes even death. Hypo unawareness isparticularly frightening; when a GSD patient receives no warning that theirblood sugar is too low, they will just collapse suddenly.
When hypoglycemia goes untreated, it can lead to the evenmore dangerous ketoacidosis. This is when the body has used up its glucose, andstarts breaking down fatty acids which produce ketones – high levels of whichcan cause parts of the body to stop working normally, and cause the blood tobecome acidic. It is common for GSD0ers to experience this in the morning,after their body has been deprived of glucose overnight, and has the slightlybizarre trigger sign of the sufferer smelling of peardrops or nail vanishremover (but this cannot be smelt by the sufferer, only those around them). Itis extremely painful.
Other symptoms include speech difficulties orimpediments, postprandial hyperglycemia (high blood sugar after a meal, whichcan leave the sufferer feeling extremely sick), looking deathly pale, beingextremely thin in appearance and short in stature, dark circles under the eyes,painful long-lasting hicups, leukonychia (white spots in the nails), discomforton the right side of the abdomen, neurological damage or impairment, and muscleweakness or cramps.