Glycogen Storage Disease IB

A hereditary autosomal recessive type I glycogen storage disease caused by mutation in the SLC37A4 gene and characterized by short stature, a protruding abdomen, HEPATOMEGALY; NEUTROPENIA and recurrent BACTERIAL INFECTIONS. OMIM: 232220

Also Known As:

Networked: 97 relevant articles (13 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neutropenia
2.	Inflammatory Bowel Diseases (Inflammatory Bowel Disease)
3.	Glycogen Storage Disease (Glycogenosis)
4.	Infections
5.	Inflammation (Inflammations)

Experts

1.	Weinstein, David A: 13 articles (01/2020 - 03/2008)
2.	Mansfield, Brian C: 13 articles (11/2018 - 03/2002)
3.	Jun, Hyun Sik: 9 articles (04/2022 - 06/2008)
4.	Chou, Janice Y: 9 articles (11/2018 - 04/2007)
5.	Lee, Young Mok: 7 articles (04/2022 - 05/2014)
6.	Derks, Terry G J: 5 articles (01/2022 - 01/2020)
7.	Pan, Chi-Jiunn: 5 articles (11/2009 - 12/2002)
8.	Chou, Janice Yang: 5 articles (09/2006 - 03/2002)
9.	Park, Byung-Chul: 3 articles (04/2022 - 01/2018)
10.	Park, Tae Sub: 3 articles (04/2022 - 01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glycogen Storage Disease IB:

1.	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/01/1993 - "These findings indicate that daily and twice-weekly treatment with G-CSF of long duration are safe and effective for patients with GSD Ib. " 01/01/2019 - "We formed a cooperative group to review outcomes of the long-term treatment of GSD Ib patients treated with G-CSF. " 10/01/2003 - "The bone and spleen of G6PT-/- mice are developmentally delayed and accompanied by marked hypocellularity of the bone marrow, elevation of myeloid progenitor cell frequencies in both organs and a corresponding dramatic increase in granulocyte colony stimulating factor levels in both GSD-Ib mice and humans. " 02/01/2001 - "In subjects with GSD Ib, an increased myelopoetic activity of the bone marrow which is intensified under long-term treatment with G-CSF can be demonstrated by MRI." 01/01/1993 - "To improve the quality of life in a 9-year-old boy with GSD Ib, we subcutaneously administered recombinant human granulocyte colony-stimulating factor (G-CSF). "
2.	empagliflozinIBA 07/02/2021 - "The present case suggests that empagliflozin can be safe and effective in inducing IBD remission in GSD Ib patients and can even postpone surgery. " 05/01/2023 - "Finding balance between mature and immature neutrophils: The effects of empagliflozin in GSD-Ib." 12/01/2022 - "We report the largest single centre cohort of GSD Ib patients treated with empagliflozin to date. " 12/01/2022 - "We report our experience in treating 8 paediatric GSD Ib patients with empagliflozin with a cumulative treatment time greater than 12 years. " 07/01/2022 - "Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment."
3.	Sodium-Glucose Transporter 2 InhibitorsIBA 12/01/2022 - "Treatment with SGLT2 inhibitors is a novel and favourable treatment option for neutropaenia and neutrophil dysfunction in GSD Ib. " 01/01/2020 - "SGLT2 inhibitors are a new and probably safe treatment option for GSD Ib-associated neutropenia and neutrophil dysfunction. " 07/01/2022 - "Herein we report the treatment of an adult patient suffering from GSD-Ib with empagliflozin, an SGLT-2 inhibitor." 07/01/2022 - "One of these pregnancies was managed with empagliflozin, an SGLT2 inhibitor, repurposed for the treatment of neutropenia in GSD Ib. " 01/01/2023 - "Specific therapeutic interventions are available for some diseases, such as enzyme replacement therapy to correct enzyme deficiency in Pompe disease and SGLT2 inhibitors for neutropenia and neutrophil dysfunction in GSD Ib. "
4.	1,5-anhydroglucitolIBA 01/01/2020 - "Recently, SGLT2 inhibitors such as empagliflozin that reduce the plasma levels of 1,5-anhydroglucitol have been described as a new treatment option for the neutropenia and neutrophil dysfunction in patients with GSD Ib. " 07/01/2022 - "Recently, kidney sodium-glucose co-transporter-2 (SGLT2) inhibitors such as empagliflozin known to reduce plasma levels of 1,5-anhydroglucitol (1,5-AG) and its toxic derivatives in neutrophils, have been described as a new treatment option in case reports of patients with GSD-Ib from Europe and Asia. "
5.	Glucose (Dextrose)FDA LinkGeneric 11/01/2023 - "In conclusion, this study sheds light on the significance of G6PT in monocyte-to-macrophage differentiation and underscores its importance in maintaining glucose homeostasis and supporting immune response in GSD-Ib. " 12/01/2010 - "Patients with GSD-Ia and those with GSD-Ib exhibit a common metabolic phenotype of disturbed glucose homeostasis that is not evident in patients with G6Pase-β deficiency. " 06/15/2008 - "Clinically, GSD-Ib patients manifest disturbed glucose homeostasis and neutrophil dysfunctions but the cause of the latter is unclear. " 02/01/2007 - "GSD-Ib patients suffer from disturbed glucose homeostasis and myeloid dysfunctions. " 09/01/1999 - "Since these patients, and the four type Ic patients from two families previously studied, shared several mutations with GSD Ib patients, we conclude that their basic defect is in the putative glucose 6-phosphate translocase and that they should be reclassified as GSD Ib. "
6.	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 01/01/1993 - "We conclude that myeloid growth factors are effective for the treatment and prevention of acute infections and chronic inflammatory complications in patients with GSD Ib."
7.	Mesalamine (Mesalazine)FDA LinkGeneric 12/01/2008 - "Gastrointestinal inflammation in GSD Ib has been successfully treated with 5-aminosalicylic acid and granulocyte colony-stimulating factor (G-CSF). "
8.	Growth Hormone (Somatotropin)IBA 08/01/2003 - "Improved growth with growth hormone therapy in a child with glycogen storage disease Ib."
9.	SodiumIBA 07/01/2022 - "Recently, kidney sodium-glucose co-transporter-2 (SGLT2) inhibitors such as empagliflozin known to reduce plasma levels of 1,5-anhydroglucitol (1,5-AG) and its toxic derivatives in neutrophils, have been described as a new treatment option in case reports of patients with GSD-Ib from Europe and Asia. "
10.	Codon (Codons)IBA 12/01/2002 - "We now report an improved G6PT assay, based on an adenoviral vector-mediated expression system and its use in the functional characterization of all 30 codon mutations found in GSD-Ib patients. " 12/01/2002 - "To date, 69 G6PT mutations, including 28 missenses and 2 codon deletions, have been identified in GSD-Ib patients. "

Therapies and Procedures

1.	Therapeutics 01/01/2018 - "A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy." 02/01/2007 - "To evaluate the feasibility of gene replacement therapy for GSD-Ib, we have infused adenoviral (Ad) vector containing human G6PT (Ad-hG6PT) into G6PT-deficient (G6PT(-/-)) mice that manifest symptoms characteristics of the human disorder. " 01/01/2007 - "Hepatocyte transplantation might be an alternative to liver transplantation and dietary therapy in GSD-Ib." 03/01/2002 - "Both GSD-Ia and GSD-Ib patients manifest phenotypic G6Pase deficiency, characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic academia and the current treatment is a dietary therapy. " 08/01/2003 - "Improved growth with growth hormone therapy in a child with glycogen storage disease Ib."
2.	Transplantation 01/01/2007 - "In this study, hepatocyte transplantation allowed a normal diet in a patient with GSD-Ib, with substantial improvement in their quality of life. " 01/01/2007 - "Hepatocyte transplantation might be an alternative to liver transplantation and dietary therapy in GSD-Ib."
3.	Liver Transplantation 03/01/2008 - "Upon review of the English-language literature, 42 children <19 yr of age were discovered to have undergone liver transplantation for complications associated with GSD (18 patients with GSD-Ia, six with GSD-Ib, one with GSD-III, 17 with GSD-IV). " 01/01/2007 - "Hepatocyte transplantation might be an alternative to liver transplantation and dietary therapy in GSD-Ib." 01/01/2004 - "There are few reports of liver transplantation in glycogenosis type Ib (GSD Ib). " 03/01/2008 - "As liver pathology is not the major source of morbidity in GSD-Ib and GSD-IIIa, liver transplantation should only be performed when there is high risk for HCC or evidence of substantial cirrhosis or liver dysfunction. " 06/01/2023 - "We report on liver transplantation in two patients with GSD Ib on treatment with empagliflozin. "
4.	Enzyme Replacement Therapy 01/01/2023 - "Specific therapeutic interventions are available for some diseases, such as enzyme replacement therapy to correct enzyme deficiency in Pompe disease and SGLT2 inhibitors for neutropenia and neutrophil dysfunction in GSD Ib. "
5.	Off-Label Use 01/01/2020 - "Off-label use of empagliflozin in 4 GSD-Ib patients with incomplete response to granulocyte colony-stimulating factor (GCSF) treatment decreased serum 1,5AG and neutrophil 1,5AG6P levels within 1 month. "