Two cases of unusual type I glycogenosis

Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases

“…For adrenaline tests, all patients with GSD Ia and IIIa showed positive results, while the result was negative for two patients with IXa and one patient with GSD Ib. We think the adrenaline test is helpful for the diagnosis of type Ia and type IIIa GSD (Dai et al, 2009; Rosenfeld, Chibisov, Chistova, Leontjev, & Karmansky, 1978).…”

Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control

“…In 1952, GSD I became the first inborn error of metabolism proven to be caused by an enzyme deficiency when Gerty and Carl Cori demonstrated deficiency of glucose‐6‐phosphatase activity in liver samples obtained in patients who had a clinical diagnosis of von Gierke disease . In the 1960s, portacaval shunts were introduced as a way to maintain normal blood glucose concentrations in the systemic circulation, but the condition was almost universally fatal until 1972 when continuous glucose therapy was introduced . While continuous feeds improved survival for this population, hyperinsulinemia caused by the glucose infusion was associated with life‐threatening hypoglycemia and possible sudden death when any interruption occurred .…”