Defective neutrophil and monocyte functions in glycogen storage disease type Ib: A literature review

Abstract

A summary review of leukocyte function in 42 published cases of glycogen storage disease Ib is presented. Polymorphonuclear and monocyte dysfunctions were evidenced in the majority of cases, whereas lymphocytes appeared to be unaffected. Phagocyte dysfunctions comprised in vivo mobilization and motility, in vitro random and directed migration, and one or several component functions of the "metabolic" ("respiratory") burst. On the basis of the available data it is impossible to know whether a primary functional deficit of the glucose 6-phosphate transport protein of the microsomal glucose 6-phosphatase system, as demonstrated in liver, also exists in these phagocytic cells and is responsible for this dysfunction.

Necrotic foci, elevated chemokines and infiltrating neutrophils in the liver of glycogen storage disease type Ia

“…A second, less prevalent form of GSD-I, GSD-Ib, exhibits identical metabolic abnormalities, but is caused by mutations of the G6P transporter (1). GSD-Ib patients exhibit additional clinical manifestations of neutropenia and myeloid dysfunctions (1)(2)(3)(4). In the last two and half decades, effective dietary therapies (5,6) have significantly alleviated the metabolic abnormalities of GSD-I.…”

Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice

“…1,2 In addition, GSD-Ib patients manifest neutropenia along with myeloid dysfunctions in Ca 2+ mobilization, respiratory burst and chemotaxis. [4][5][6] As the primary gluconeogenic tissues are the liver and kidney, these additional symptoms suggest that myeloid tissues might be the most important non-gluconeogenic sites for G6PT expression.…”

Liver Transplantation in Children With Glycogen Storage Diseases: Risk Assessment and Necessity of This Procedure

“…Данное заболевание обычно диагностируется в раннем возрасте, когда у детей появляются эпизоды ранней гипогликемии, лактат-ацидоз, гиперлипиде-мия и гепатомегалия. Ib тип близок по симптомати-ке к Ia типу, однако при типе Ib могут наблюдаться явления нейтропении и нейтрофильной дисфунк-ции [18]. Пациенты с болезнью Гирке находятся в группе риска по развитию жизнеугрожающих мета-болических нарушений аденомы печени и гепато-целлюлярной карциномы, в связи с чем их рассма-тривают как кандидатов на трансплантацию печени.…”