Glycogen storage disease type Ib without immunodeficiency: 60 years from the first symptoms to the final diagnosis

Agata Rawiak; Małgorzata Średzińska; Ewa Ehmke vel Emczyńska-Seliga; Barbara Piątosa; Emilia Samborowska; Magdalena Kaczor; Dariusz Rokicki; Dorota Wesół-Kucharska; Milena Greczan

Agata Rawiak Department of Pediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, Warsaw, Poland
Małgorzata Średzińska Outpatient Clinic for Metabolic Diseases, Children’s Memorial Health Institute, Warsaw Poland
Ewa Ehmke vel Emczyńska-Seliga Department of Pediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, Warsaw, Poland
Barbara Piątosa Histocompatibility Laboratory, Children’s Memorial Health Institute, Warsaw, Poland
Emilia Samborowska Laboratory of Metabolic Disorders, Children’s Memorial Health Institute, Warsaw, Poland
Magdalena Kaczor Department of Pediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, Warsaw, Poland
Dariusz Rokicki Department of Pediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, Warsaw, Poland
Dorota Wesół-Kucharska Department of Pediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, Warsaw, Poland
Milena Greczan Department of Pediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, Warsaw, Poland

Keywords: glycogen storage disease type Ib, hypoglycemia, hepatomegaly, neutropenia, hyperlipidemia

Abstract

Glycogen storage disease type Ib (GSD Ib) is a rare, genetically determined disorder belonging to the group of inherited metabolic diseases that disrupt glycogen metabolism. It usually manifests in early childhood with recurrent episodes of severe hypoglycemia, hyperlipidemia, hyperuricemia, hepatomegaly, and profound immunodeficiency due to neutropenia. The presented case concerns a 61-year-old patient diagnosed with GSD Ib in adulthood, based on genetic testing that revealed two pathogenic variants in the SLC37A4 gene. The disease followed an atypical course—without neutropenia or increased susceptibility to infections, while the predominant manifestations were dyslipidemia and hepatomegaly. After the implementation of dietary therapy, including regular administration of uncooked cornstarch, good metabolic control was achieved with normalization of liver size. This case illustrates the considerable clinical heterogeneity of GSD Ib and highlights the importance of considering inborn metabolic disorders in adult patients with chronic, unexplained biochemical abnormalities.