Information on GSD1B
Basic details
Name: Glycogen storage disease Ib | Acronym: GSD1B
Alt. names: G6PT1 deficiency
Gene: SLC37A4 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1998
Last updated on: 2023-02-28 16:41:18 by
Description
Dietary measures can be beneficial allow optimal glucose levels and promote growth and development (additionally, specific carbohydrate sources should be limited); Allopurinol to prevent gout and lipid-lowering medications to prevent hyperlipidemia may be necessary when dietary therapy is ineffective; Citrate supplementation and ACE inhibitors may help prevent development of decrease renal complications, though renal transplant may ultimately be necessary; Surveillance for and treatment of hepatic neoplasms (including liver transplant in some) can be beneficial; G-CSF may be beneficial due to recurrent infections. Refs. PMIDs: 4300573; 212064; 6928812; 6578929; 6298622; 6309784; 3860000; 3459848; 3464427; 2311631; 1719175; 1375344; 8319729; 273986; 8758135; 9428641; 9758626; 9686363; 10931421; 12576310; 20301489; 21575371; 21599942; 21629566
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Neutropenia |
34 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Reduced hepatic glucose-6-phosphate translocase activity |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hepatomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Inflammation of the large intestine |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Pancreatic fibrosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | repeated bacterial infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Splenomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.