glycogene storage treatment - Glycogen-Storage Disease Type...

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Author: David H Tegay, DO, FACMG, Associate Professor of Medicine and Medical Genetics, New York College of Osteopathic Medicine at the New York Institute of Technology; Assistant Professor of Pediatrics, Stony Brook University Medical Center Coauthor(s): Riya Jose, Medicine Department Academic Fellow, New York College of Osteopathic Medicine of the New York Institute of Technology Contributor Information and Disclosures Treatment Medical Care Because measuring debrancher activity in skin fibroblasts or lymphocytes is not as reliable as measuring debrancher activity in liver and muscle, a brief hospitalization is usually required to obtain the required tissue samples. Glucagon, galactose, or fructose stimulation tests are not recommended because patients with glycogen-storage disease (GSD) type I (GSD I) may develop severe lactic acidosis. Also, these test results are only suggestive; they are never diagnostic. Many patients with GSD type III (GSD III) whose diagnosis is not yet established are already hospitalized to evaluate hepatomegaly and/or hypoglycemia. Provide frequent daytime feedings to infants and continuous nasogastric tube (NGT) feedings at night to ensure they maintain satisfactory blood glucose levels. Once a child has reached age 2-3 years, nocturnal NGT feedings can usually be replaced by feedings containing raw cornstarch (ie, a slow-release form of glucose) dispersed in room-temperature water or a diet drink. This suspension maintains blood glucose levels at satisfactory levels for 3-6 hours. Warn caregivers never to substitute any other type of starch (eg, rice, potato) for cornstarch because only cornstarch achieves the desired results. Moreover, do not use hot water to achieve a more homogeneous suspension; aqueous cornstarch suspensions prepared with hot water may maintain blood glucose levels at satisfactory levels for only 1-2 hours. 23 Significant hypoglycemia sometimes develops in patients receiving adequate dietary control. This complication is usually caused by deviations from the patient's dietary therapy, either because of an intercurrent illness or because of occasional adolescent rebelliousness. When a patient experiences more than a very occasional episode of hypoglycemia, providing the family with a glucometer and the associated paraphernalia and instructions on how to use the device may be best. Treatment of hypoglycemic episodes depends on the patient's mental status. For a patient who is awake and alert, a sufficient dose should be 15 g of simple carbohydrate (ie, 4 oz of most fruit juices, 3 tsp table sugar, 15 g glucose either as tablets or gel by mouth). If the patient's symptoms do not improve promptly, or if the blood glucose level does not rise above 39 mmol/L (ie, 70 mg/ dL) within 15 minutes, repeat the carbohydrate dosage. Failure to respond adequately to a second dose is most unusual; indeed, such a failure mandates a search for other causes of hypoglycemia
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(eg, overwhelming infection, exogenous insulin administration, adrenal insufficiency). Waiting
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glycogene storage treatment - Glycogen-Storage Disease Type...

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