A new variant of glycogen storage disease Type I probably due to a defect in the glucose-6-phosphate transport system

Evaluation of central nervous system in patients with glycogen storage disease type 1a

“…Twenty-three patients with GSD type 1a were enrolled. All the patients were diagnosed previously by histopathological findings, glycogen amount, and G6Pase level in liver tissue according to criteria described by Narisawa et al 9 Patients with history of prematurity, head trauma or any acute/chronic disease other than GSD type 1a…”

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

“…Early on, the authors recognized the variability of the hepatic GSDs. In 1978, Narisawa et al 3 explained the paradox of the four patients with GSD and normal enzyme activity when he described GSD type Ib (GSD Ib) and showed that it was caused by deficiency of the transporter enzyme glucose-6-phosphate translocase (G6PT). Deficiency of the enzyme G6Pase results in GSD Ia, and deficiency of G6PT results in GSD Ib.…”

Interferon-γ Corrects the Respiratory Burst Defect In Vitro in Monocyte-Derived Macrophages from Glycogen Storage Disease Type 1b Patients

“…In GSD la, the enzyme glucose-6-phosphatase is defective ( I , 2), whereas in G S D I b, the glucose-6-phosphate translocase is affected (3)(4)(5). The clinical features of GSD I b are similar to those of GSD la with the exception that patients with GSD I b are often neutropenic and suffer from recurrent bacterial infections suggesting an impairment in their immune system (6-1 1 ) .…”