Von Gierke's disease
| Glycogen storage disease type I | |
|---|---|
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E74.0 |
| ICD-9-CM | 271.0 |
| OMIM | 232200 232240 |
| DiseasesDB | 5284 |
| MedlinePlus | 000338 |
| eMedicine | ped/2416 |
| GeneReviews | |
Glycogen storage disease type I (GSD I) or von Gierke disease, is the most common of the glycogen storage diseases. This genetic disease results from deficiency of the enzyme glucose-6-phosphatase, and has an incidence in the American population of approximately 1 in 50,000 to 100,000 births.
The 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 and results in increased glycogen storage in liver and kidneys. Both organs function normally in childhood, but are susceptible to a variety of problems in 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.
The disease was named after German doctor Edgar von Gierke.
Clinical manifestations result, directly or indirectly, from
Hypoglycemia is the central clinical problem, the one that is most damaging, and the one that most often prompts the initial diagnosis. Maternal glucose transferred across the placenta prevents hypoglycemia in a fetus with GSD I, but the liver is enlarged with glycogen at birth. The inability to generate and release glucose soon results in hypoglycemia, and occasionally in lactic acidosis fulminant enough to appear as a primary respiratory problem in the newborn period. Neurological manifestations are less severe than if the hypoglycemia were more acute. The brain's habituation to mild hypoglycemia is at least partly explained by use of alternative fuels, primarily lactate.
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