Type I glycogen storage disease

Excessive storage. Suggest an explanation for the fact that the amount of glycogen in type I glycogen-storage disease (von Gierke disease) is increased. 

Limmer, J., Fleig, W.E., Leupold, D., Bittner, R., Ditschuneit, H., Beger, H.G. Hepatocellular carcinoma in type I glycogen storage disease. Hepatology 1998 8 531-537... 

Lactic acidosis and substrate cycling in glucose-6-phosphatase deficiency. Urinary lactate output is increased 10- to 300-fold in patients with type I glycogen storage disease. 

Saunders AC, et til. Clinictil evaluation of a portable lactate meter in type I glycogen storage disease. J Inherit Metab Dis. 2005 28(5) 695-701. 

A galactose or fructose tolerance test normally results in a rise in blood sugar levels as a result of their conversion in the liver by a series of enzymes including glucose-6-phosphatase. In Type I glycogen storage disease this does not occur. 

Increased blood lactate can cause a metabolic acidosis (lactic acidosis). It occurs in conditions where there is poor tissue perfusion resulting in anoxia, e.g. circulatory failure and shock Lactic acidosis can also occur in Type I glycogen storage disease and in phenformin treatment. 

BENEDETTI, A. and KOLB, F. 0. (1966) Metabolic effects of glucagon and epinephrine in four adults vith type I glycogen storage disease. Diabetes, 15, 529. 

Kalhan, S.C., C. Gilfillan, K.Y. Tsemg and S.M. Savin, 1982 Glucose production in type I glycogen storage disease.J Pediatr. 101, 159-160. 

Several types of glycogen-storage disease are now known in most cases, the accumulation of glycogen can be correlated with a relative deficiency of either n-glucose 6-phosphatase or the debranching-enzyme system (Type I and III disease, respectively). In a very few cases, the enzymic defect is either in branching enzyme or in phosphorylase (Type IV or VI disease, respectively) see Table VII. In the Type II and V diseases, the enzyme deficiencies are different from the above, but have not yet been fully identified. 

There are multiple types of glycogen storage diseases, which can be classified in hepafic and myopalhic forms. Types I, in, IV, VI, and IX affect liver primarily. 

A test which is particularly useful in the diagnosis of insulinoma and some types of glycogen storage diseases, especially types I and... 

Restaino I, Kaplan BS, Stanley C, Baker L (1993) Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr 122 392-396... 

There are important methodologic considerations which apply to the use of cultured amniotic fluid cells for the detection of biochemical disorders. The first is that the enzymes which can be sampled are those which are usually present in fibroblasts or fibroblast-like cells. Therefore, conditions such as phenylketonuria and glycogen storage disease type I, which are associated with deficiencies of enzymes present only in liver and kidney, are not amenable to this approach. The same also pertains to enzyme deficiencies affecting other specific tissues. 

The most common glycogen storage disease. Type I or von Gierke disease, is a deficiency in glucose 6-phosphatase in which glycogen structures are normal however, the liver is unable to dephosphory-late glucose 6-phosphate, and it remains trapped In the cell. 

Mah, C., Cresawn, K. O., Fraites, T. J., Lewis, M. A., Zolotukhin, I. and Byrne, B. (in press). Sustained correction of glycogen storage disease type II using adeno-associated virus serotype I vectors. Gene Ther. 

Gerin I, Veiga-da-Cunha M, Achouri Y, Collet IF, Van Schaftingen E. Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type lb. FEBS Lett. 1997 419 235-238. 

Labrnne, R, Trioche, P., Duvaltier, L, Chevalier, R, Odievre, M. Hepatocellular adenomas in glycogen storage disease type I and III a series of 43 patients and review of the literature. J. Pediatr. Gastroenterol. Nutr. 1997 24 276 - 279... 

In glycogen storage disease (GSD type I, van Gierke s disease), a low Hb Aj , level has been recorded. In galactosemia, the inherited inability to... 

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