Type 1 glycogen storage disease and recurrent calcium nephrolithiasis

Type 1 glycogen storage disease and recurrent calcium nephrolithiasis.

Glycogen storage disease (type-III).

Glycogen storage disease (GSD) type III is caused by deficiency of the enzyme amylo-1,6 glucosidase (debranching enzyme) leading to the storage of an abnormal glycogen with short outer chains called limit dextrins(l). Clinical manifestations are usually due to decreased hepatic glycogenolysis and occasionally due to a myopathy associated with an increase in muscle glycogen. We report a case of ...

Type V glycogen storage disease.

We describe three children with type V glycogen storage disease, who were reluctant to climb hills. We suggest that this condition, usually described as being of adult onset, can often be diagnosed in childhood.

Prevention of recurrent calcium nephrolithiasis

Calcium-containing renal calculi are the most common stone type in reported series and recur in 26–53% of patients over a 10 year period. Because of this tendency, interventions aimed at reducing or preventing recurrence are an important strategy for reducing the morbidity associated with stone disease. This guideline uses an evidence-based review of the published literature with the purpose of...

Prevention of recurrent calcium nephrolithiasis

Calcium-containing renal calculi are the most common stone type in reported series and recur in 26–53% of patients over a 10 year period. Because of this tendency, interventions aimed at reducing or preventing recurrence are an important strategy for reducing the morbidity associated with stone disease. This guideline uses an evidence-based review of the published literature with the purpose of...