Von Gierke disease - A child presents with Massive hepatomegaly, hypoglycemia, and there is no improvement with Glucagon.

Question 30

A child presents with Massive hepatomegaly, hypoglycemia, and there is no improvement with Glucagon. The probable diagnosis is

a.       Von Gierke disease

b.      Mcardle

c.       Cori

d.      Forbe

Answer

a) Von Gierke

Reference

Harper 27^th Edition Pages 166, 308, table 19.2

Table 73.1 Nelson 15^th Edition Table 350-1 Harrison 15^th Edition

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Discussion

Glycogen storage disease type I or von Gierke's disease, is the most common of the glycogen storage diseases. This genetic disease results from deficiency of the enzyme glucose-6-phosphatase. This deficiency impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis. Since these are the two principal metabolic mechanisms by which the liver supplies glucose to the rest of the body during periods of fasting, it causes severe hypoglycemia. Reduced glycogen breakdown results in increased glycogen storage in liver and kidneys, causing enlargement of both. Both organs function normally in childhood but are susceptible to a variety of problems in the adult years. Other metabolic derangements include lactic acidosis and hyperlipidemia. Frequent or continuous feedings of cornstarch or other carbohydrates are the principal treatment. Other therapeutic measures may be needed for associated problems.

Explanation

Self Explanatory

Comments

GSD No	Name	Enzyme Affected	Tissue Distribution of Excessive Glycogen and Enzyme Deficiency	Clinical Symptoms and Signs	Comments
GSD Ia	Von Gierke disease,	Glucose-6-phosphatase	Liver, kidney, intestine; frequent intranuclear glycogen seen in   these organs not diagnostic; continuous nighttime feeding by   tube and pump may alleviate clinical symptoms; portacaval   shunt risky and clinically disappointing; treatment with   phenytoin or phenobarbital ineffective	Enlarged liver and kidneys; "doll face," stunted growth,   normal mental development; tendency to hypoglycemia, lactic   acidosis, hyperlipidemia, hyperuric acidemia, gout, bleeding;   IV* galactose or fructose not converted to glucose (caution:   these tests may precipitate acidosis); abortive or no rise in   blood glucose after SC† epinephrine or IV glucagon; normal   urinary catecholamines; prognosis fair to good	hepatorenal glycogenosis; no   involvement of skeletal or cardiac muscle, or of leukocytes or   cultured skin fibroblasts (glucose-6-phosphatase not normally   present in these tissues)
GSD Ib		In vitro activity of glucose-6-phosphatase is     normal, but translocase is deficient	Activity of glucose-6-phosphatase is normal in frozen liver   homogenate but is not demonstrable in isotonic homogenate   of fresh liver tissue that has never been frozen	Symptoms are as those of GSD Ia; in addition, frequent   neutropenia	Transport defect for glucose-6-phosphate at microsomal   membrane
GSD Ic		In vitro activity of glucose-6-phosphatase     can be demonstrated	Activity of glucose-6-phosphatase is normal in frozen liver   homogenate but is deficient in isotonic homogenate of fresh   liver tissue that has never been frozen	The patient, an 11-yr–old girl, had hepatomegaly, brittle   diabetes, frequent hypoglycemia	Transport defect for inorganic phosphate at microsomal   membrane

Tips

The hypoglycemia of GSD I is termed "fasting", or "post-absorptive", meaning that it occurs after completion of digestion of a meal-- usually about 4 hours later. This inability to maintain adequate blood glucose levels during fasting results from the combined impairment of both glycogenolysis and gluconeogenesis. Fasting hypoglycemia is often the most significant problem in GSD I, and typically the problem that leads to the diagnosis. Chronic hypoglycemia produces secondary metabolic adaptations, including chronically low insulin levels and high levels of glucagon and cortisol.