Gene therapy and genome editing for type I glycogen storage diseases

The glycogen storage diseases.

Liver transplantation for type I glycogen storage disease.

STUDIES of haptoglobin, 1-3 group-specific component,3,4 and numerous other products of hepatic synthesis59 have shown that liver homografts permanently retain their original metabolic specificity after transplantation. Consequently, liver transplantation has been regarded for some years4 as a potentially decisive way to treat those inborn errors of metabolism which result partly or completely ...

Gene therapy: prospects for glycolipid storage diseases.

Lysosomal storage diseases comprise a group of about 40 disorders, which in most cases are due to the deficiency of a lysosomal enzyme. Since lysosomal enzymes are involved in the degradation of various compounds, the diseases can be further subdivided according to which pathway is affected. Thus, enzyme deficiencies in the degradation pathway of glycosaminoglycans cause mucopolysaccharidosis, ...

Genome-editing Technologies for Gene and Cell Therapy.

Gene therapy has historically been defined as the addition of new genes to human cells. However, the recent advent of genome-editing technologies has enabled a new paradigm in which the sequence of the human genome can be precisely manipulated to achieve a therapeutic effect. This includes the correction of mutations that cause disease, the addition of therapeutic genes to specific sites in the...

Glycogen storage disease type I: laboratory data and diagnosis.

A study of 20 cases of glycogen storage disease type I has shown differences from the classical picture. Hyperuricemia was observed in fewer than half of the cases. All patients had increased triglycerides in serum, but fewer than two thirds had increased concentrations of total cholesterol. There was a consistent increase of aminotransferases in serum. Many textbooks discuss hyperuricemia, lac...