Glycogen storage disease type 6

December 31, 2014

Overview

Glycogen storage disease type 6: A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase b kinase leads to hypoglycemia and accumulation of glycogen in the liver.

Symptoms

The list of signs and symptoms mentioned in various sources for Glycogen storage disease type 6 includes the 9 symptoms listed below: * Enlarged liver * Ketosis * Low blood sugar * Growth retardation * Faintness * Weakness * Hunger * Nervousness * Increased liver glycogen level

Causes

Almost all glycogen storage diseases (Types I through V and Type VII) are transmitted as autosomal recessive traits. The transmission mode of Type VI is unknown; Type VIII may be an X-linked trait. The most common glycogen storage disease is Type I — von Gierke’s, or hepatorenal glycogen storage disease — which results from a deficiency of the liver enzyme glucose-6-phosphatase. This enzyme converts glucose-6-phosphate into free glucose and is necessary for the release of stored glycogen and glucose into the bloodstream, to relieve hypoglycemia. Infants may die of acidosis before age 2; if they survive past this age, with proper treatment, they may grow normally and live to adulthood, with only minimal hepatomegaly. However, there’s a danger of adenomatous liver nodules, which may be premalignant.

Prognosis

Prognosis of Glycogen storage disease type 6: often symptoms are so mild that they're not noticed until adulthood.The 'prognosis' of Glycogen storage disease type 6 usually refers to the likely outcome of Glycogen storage disease type 6. The prognosis of Glycogen storage disease type 6 may include the duration of Glycogen storage disease type 6, chances of complications of Glycogen storage disease type 6, probable outcomes, prospects for recovery, recovery period for Glycogen storage disease type 6, survival rates, death rates, and other outcome possibilities in the overall prognosis of Glycogen storage disease type 6. Naturally, such forecast issues are by their nature unpredictable.

Treatment

For Type I, treatment aims to maintain glucose homeostasis and prevent secondary consequences of hypoglycemia through frequent feedings and constant nocturnal nasogastric (NG) drip with Polycose, dextrose, or Vivonex. Treatment includes a low-fat diet, with normal amounts of protein and calories; carbohydrates should contain glucose or glucose polymers only. Therapy for Type III includes frequent feedings and a high-protein diet. Type IV requires a high-protein, high-calorie diet; bed rest; diuretics; sodium restriction; and paracentesis, if necessary, to relieve ascites. Types V and VII require no treatment except avoidance of strenuous exercise. No treatment is necessary for Types VI and VIII; no effective treatment exists for Type II.