von gierke disease…

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type i glycogen storage disease, von gierke disease, group of inherited metabolic disorders that involve increased glycogen storage, glycogen is needed to fuel muscles, its metabolism, affect the whole body, problems include slow growth, enlarged liver, gout, kidney failure, chronic low blood sugar, von gierke disease was associated, stunted growth, delayed, absent puberty, early death, the development of treatments, growth, puberty, quality of life have markedly improved, von gierke disease, all type i glycogen storage diseases, inherited in an autosomal recessive manner, autosomal chromosomes, the non-sex chromosomes, parents, carriers, the mutated gene, each of children has a 25% chance of inheriting the disease, all the subtypes of this disease share a common feature, lack of proteins responsible, transporting, breaking down the components of glycogen, abnormal amounts of glycogen accumulate in various tissues, causing a wide range of symptoms, severe low blood sugar, hypoglycemia, doll-like features in children, puffy cheeks, a thin chest, limbs, protuberant belly, intolerance of fasting, frequent feeding, stunted growth, delayed, underdeveloped puberty, enlarged liver, gout, a painful inflammation of joints, easy bruising, nosebleeds, increased risk, infection, ulcers, the mouth, bowels, due to malfunctioning white blood cells, in one type, enlarged liver, accumulated glycogen, fat on exam, liver tumors, adenomas, low blood sugar, hypoglycemia, high blood uric acid, a risk factor, gout, high blood lactic acid, increase in blood lactic acid, failure to increase blood sugar, adrenaline, glucagon, administered, high blood fats, triglycerides, inability to tolerate fasting, improvement in response to frequent feedings, kidney stones, kidney failure, biopsy of liver, kidney showing accumulated glycogen, enzyme tests on liver biopsy, genetic tests, mutations, disease concentrates on avoiding low blood sugar, frequent feedings, foods that contain carbohydrates, starches, neither fruit nor milk sugar, adequately broken down in this disease, best avoided, overnight fasting is avoided by continuous feedings, a tube that goes, the nose, stomach, sugars, uncooked cornstarch, tube, put in at bedtime, taken out each morning, a medication, allopurinol, lower blood uric acid, decrease the risk, gout, association, glycogen storage disease, agsdus, development, the treatments, patients have improved growth, health, treated at a young age, live into adulthood, early treatment also decreases the rate of severe problems liver tumors, kidney failure, gout, life-threatening low blood sugar, seizures, lethargy, confusion, due to low blood sugar, gout, kidney failure, liver tumors, short adult stature, underdeveloped secondary sexual characteristics, osteoporosis, ulcers, the mouth, bowel, frequent infection, family history of glycogen storage disease, early infant death, due to low blood sugar, genetic counseling, family history of glycogen storage disease, no simple way, prevent glycogen storage disease, prospective parents, seek genetic counseling, testing, risk, passing on von gierke disease, treatment is effective at preventing many, the complications.