Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using ¹³C-glucose breath test.

ABSTRACT:

Background

Glycogen storage disease type Ib (GSD Ib) is an autosomal recessively inherited deficiency of the glucose-6-phosphate translocase (G6PT). Clinical features include a combination of a metabolic phenotype (fasting hypoglycemia, lactic acidosis, hepatomegaly) and a hematologic phenotype with neutropenia and neutrophil dysfunction. Dietary treatment involves provision of starches such as uncooked cornstarch (UCCS) and Glycosade® to provide prolonged enteral supply of glucose. Granulocyte colony-stimulating factor (G-CSF) is the treatment of choice for neutropenia. Because long-term stimulation of hematopoiesis with G-CSF causes serious complications such as splenomegaly, hypersplenism, and osteopenia; hematopoietic stem cell transplantation (HSCT) has been considered

SUBMITTER: Turki A 

PROVIDER: S-EPMC9826966 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature