glycogenosis meaning in Hindi

Examples

1. In insulin-dependent type I glycogenosis, when chronic hypoglycemia before diagnosis may be better tolerated than acute hypoglycemia after treatment is underway.
2. This PGAM2 deficiency results in a metabolic myopathy ( glycogenosis type X ) and has been traced to mutations in the " PGAM2 " gene.
3. Deficiency in PFK leads to glycogenosis type VII ( Tarui's disease ), an autosomal recessive disorder characterised by severe nausea, vomiting, muscle cramps and myoglobinuria in response to bursts of intense or vigorous exercise.
4. In both young and old patients, the brain may habituate to low glucose levels, with a reduction of noticeable symptoms despite type I glycogenosis, when chronic hypoglycemia before diagnosis may be better tolerated than acute hypoglycemia after treatment is underway.
5. As the erythrocyte PFK is composed of both PFKL and PFKM, this heterogeneic composition is attributed with the differential PFK activity and organ involvement observed in some inherited PFK deficiency states in which myopathy or hemolysis or both can occur, such as glycogenosis type VII ( Tarui disease ).
6. Research in this area also covers rare genetic diseases, particularly glycogenosis type II, storage diseases ( Gaucher, Niemann Pick and other sphyngolipidoses ) mitochondrial diseases and genetic immunodeficiencies such as IPEX syndrome, aiming at clarifying molecular mechanisms and develop innovative approaches to treatment such as enzyme replacement, use of nanotechnologies for genetic correction and stem cells transplantation.