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Genetic testing confirmed glycogen storage disease type Ib (GSD-Ib), identifying a homozygous splice site variant in intron 9 of the SLC37A4 gene. This case highlights the immune dysfunction\u2014neutropenia and neutrophil impairment\u2014associated with GSD-Ib, contributing to increased infection susceptibility and poor response to treatment. Genetic counselling and prenatal testing were recommended.<\/jats:p>","DOI":"10.1136\/bcr-2025-267630","type":"journal-article","created":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T14:40:31Z","timestamp":1765982431000},"page":"e267630","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Glucose-6-phosphate transporter deficiency (GSD type Ib) in an infant with an ominous outcome"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-3503-1455","authenticated-orcid":false,"given":"Aneeta","family":"Chaudhary","sequence":"first","affiliation":[{"name":"Paediatrics, King George\u2019s Medical University, Lucknow, Uttar Pradesh, India"},{"name":"Senior resident, Paediatrics, King Georges Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0805-7370","authenticated-orcid":false,"given":"Shalini","family":"Tripathi","sequence":"additional","affiliation":[{"name":"Professor, Paediatrics, King Georges Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Smrati","family":"Jain","sequence":"additional","affiliation":[{"name":"Paediatrics, King George\u2019s Medical University, Lucknow, Uttar Pradesh, India"},{"name":"Assistant Professor, Paediatrics, King Georges Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S N","family":"Singh","sequence":"additional","affiliation":[{"name":"Paediatrics, King George\u2019s Medical University, Lucknow, Uttar Pradesh, India"},{"name":"Professor and Head, Paediatrics, King Georges Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,12,17]]},"reference":[{"key":"2025121706402706000_18.12.e267630.1","unstructured":"Hoffman GF , Nyhan W , Zschocke J , et al . 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