Glycogen storage disease type III (GSD III) is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates) characterized by a deficiency in glycogen debranching enzymes. It is also known as Coris disease in honor of the 1947 Nobel laureates Carl Cori and Gerty Cori. Other names include Forbes disease in honor of clinician Gilbert Burnett Forbes (1915–2003), an American physician who further described the features of the disorder, or limit dextrinosis, due to the limit dextrin-like structures in cytosol. Limit dextrin is the remaining polymer produced after hydrolysis of glycogen. Without glycogen debranching enzymes to further convert these branched glycogen polymers to glucose, limit dextrinosis abnormally accumulates in the cytoplasm.Glycogen is a molecule the body uses to store carbohydrate energy. Symptoms of GSD-III are caused by a deficiency of the enzyme amylo-1,6 glucosidase, or debrancher enzyme. This causes excess amounts of an abnormal glycogen to be deposited in the liver, muscles and, in some cases, the heart. Signs and symptoms
Glycogen storage disease type III presents during infancy with hypoglycemia and failure to thrive. Clinical examination usually reveals hepatomegaly. Muscular disease, including hypotonia and cardiomyopathy, usually occurs later. The liver pathology typically regresses as the individual enter adolescence, as does splenomegaly, should the individual so develop it. Genetics
In regards to genetics glycogen storage disease type III is inherited in an autosomal recessive pattern (which means both parents need be a carrier), and occurs in about 1 of every 100,000 live births.
A hypertensive urgency is a clinical situation in which blood pressure is very high (e.g., 220/125 mmHg) with minimal or no symptoms, and no signs or symptoms indicating acute organ damage. This contrasts with a hypertensive emergency where severe blood pressure is accompanied by evidence of progressive organ or system damage. Definition
Hypertensive urgency is defined as severely high blood pressure with no evidence of end organ damage. The term "malignant hypertension" was also included under this category with grade III/IV hypertensive retinopathy. However, in 2018, European Society of Cardiology and the European Society of Hypertension issued a new guideline which put "malignant hypertension" under the category "hypertensive emergency", which emphasize on poor outcome if the condition is not treated urgently. Treatment
In a hypertensive urgency blood pressure should be lowered carefully to ≤160/≤100 mmHg over a period of hours to days, this can often be done as an outpatient. There is limited evidence regarding the most appropriate rate of blood pressure reduction, although it is recommended that mean arterial pressure should be lowered by no more than 25 to 30 percent over the first few hours. Recommended medications for hypertensive urgencies include: captopril, labetalol, amlodipine, felodipine, isradipine, and prazosin. Sublingual nifedipine is not recommended in hypertensive urgencies. This is because nifedipine can cause rapid decrease of blood pressure which can precipitate cerebral or cardiac ischemic events. There is also lack of evidence on the benefits of nifedipine in controlling hypertension.