2025年1月21日 · The immediate management of acute hypoglycemia involves rapid correction with oral carbohydrates or parenteral glucose. Glucagon is effective only in insulin-mediated hypoglycemia and will not help patients with hypoglycemia caused by a GSD. The following table provides a brief overview of therapeutic management for each GSD:

GSD 0 (240600*) Glycogen synthase. Onset: Variable but often after cessation of nighttime feedings or intercurrent illness. Clinical features: Fasting hypoglycemia and ketosis, postprandial lactic acidosis. Treatment: Frequent protein-rich meals, uncooked cornstarch at bedtime. Fanconi-Bickel syndrome (227810*) Glucose transporter-2 . Onset ...

A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells. [1] GSD has two classes of cause: genetic and environmental.

2010年9月1日 · Results: This management guideline specifically addresses evaluation and diagnosis across multiple organ systems (cardiovascular, gastrointestinal/nutrition, hepatic, musculoskeletal, and...

Branching enzyme deficiency (See GSD IV.) Chronic visceral ASMD (Niemann-Pick disease type B) 2 (See ASM Deficiency.) 1. Fructose-1,6-bisphosphatase deficiency is one example of a disorder of gluconeogenesis; others should also be considered. 2.

2014年11月6日 · Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney.

2025年1月5日 · Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and degradation of glycogen. This literature review summarizes the development of …

2010年3月9日 · Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with liver and muscle involvement. GSD IIIb, with liver involvement only, comprises about 15% of all affected individuals.

* There are many different glycogen storage diseases. Each is identified by a Roman numeral. GSD = glycogen storage disease.

Glycogen storage diseases (GSDs) are genetically determined metabolic diseases that cause disorders of glycogen metabolism in the body. Due to the enzymatic defect at some stage of glycogenolysis/glycogenesis, excess glycogen or its pathologic …