Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report
Abstract Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. This disorder is characterized by impaired glycogenolysis and gluconeogenesis, resulting in clinical and met...
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BMC
2025-01-01
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| Online Access: | https://doi.org/10.1186/s12920-024-02057-5 |
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| author | Zakaria Kasmi Imane Ain El Hayat Zahra Aadam Abderrahmane Errami Ibtihal Benhsaien Jalila EL Bakkouri Dalal Ben Sabbahia Meryem Atrassi Ahmed Aziz Bousfiha Fatima Ailal |
| author_facet | Zakaria Kasmi Imane Ain El Hayat Zahra Aadam Abderrahmane Errami Ibtihal Benhsaien Jalila EL Bakkouri Dalal Ben Sabbahia Meryem Atrassi Ahmed Aziz Bousfiha Fatima Ailal |
| author_sort | Zakaria Kasmi |
| collection | DOAJ |
| description | Abstract Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. This disorder is characterized by impaired glycogenolysis and gluconeogenesis, resulting in clinical and metabolic manifestations. We report a three-month-old Moroccan female patient presenting with doll-like facies, hepatomegaly, dysmorphic features, and developmental delays. Laboratory analysis revealed hypoglycemia, elevated triglyceride levels, hypercalcemia, and neutropenia. Genetic testing confirmed a homozygous pathogenic variant in SLC37A4 and a heterozygous variant of uncertain significance in TBX1. Initial management included a lactose-free and galactose-free diet, multivitamin supplementation, and granulocyte colony-stimulating factor (G-CSF) therapy to address neutropenia. A novel aspect of this case involves hypercalcemia as an unusual finding in GSD-Ib and the co-occurrence of a variant in the TBX1 gene, which is not typically associated with the disease but may contribute to the patient’s clinical presentation. These findings add a new dimension to our understanding of GSD-Ib and suggest potential avenues for future research to elucidate these genetic interactions and their impact on clinical outcomes. |
| format | Article |
| id | doaj-art-8af44fcf503e4eac8a26fdb488926bb7 |
| institution | Kabale University |
| issn | 1755-8794 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj-art-8af44fcf503e4eac8a26fdb488926bb72025-02-09T12:58:57ZengBMCBMC Medical Genomics1755-87942025-01-011811710.1186/s12920-024-02057-5Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case reportZakaria Kasmi0Imane Ain El Hayat1Zahra Aadam2Abderrahmane Errami3Ibtihal Benhsaien4Jalila EL Bakkouri5Dalal Ben Sabbahia6Meryem Atrassi7Ahmed Aziz Bousfiha8Fatima Ailal9Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II UniversityDepartment of Pediatrics I, Unit of Clinical Immunology and Infectious Diseases, Abderrahim El Harouchi Mother-Children Hospital, Ibn Rochd University HospitalLaboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II UniversityLaboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II UniversityLaboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II UniversityLaboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II UniversityDepartment of Pediatrics III, Unit of Gastroenterology and Hepatology Pediatric, Abderrahim Harrouchi Mother-Children Hospital, Ibn Rochd University HospitalDepartment of Pediatrics III, Unit of Gastroenterology and Hepatology Pediatric, Abderrahim Harrouchi Mother-Children Hospital, Ibn Rochd University HospitalLaboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II UniversityLaboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II UniversityAbstract Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. This disorder is characterized by impaired glycogenolysis and gluconeogenesis, resulting in clinical and metabolic manifestations. We report a three-month-old Moroccan female patient presenting with doll-like facies, hepatomegaly, dysmorphic features, and developmental delays. Laboratory analysis revealed hypoglycemia, elevated triglyceride levels, hypercalcemia, and neutropenia. Genetic testing confirmed a homozygous pathogenic variant in SLC37A4 and a heterozygous variant of uncertain significance in TBX1. Initial management included a lactose-free and galactose-free diet, multivitamin supplementation, and granulocyte colony-stimulating factor (G-CSF) therapy to address neutropenia. A novel aspect of this case involves hypercalcemia as an unusual finding in GSD-Ib and the co-occurrence of a variant in the TBX1 gene, which is not typically associated with the disease but may contribute to the patient’s clinical presentation. These findings add a new dimension to our understanding of GSD-Ib and suggest potential avenues for future research to elucidate these genetic interactions and their impact on clinical outcomes.https://doi.org/10.1186/s12920-024-02057-5GSD-IbGlucose-6-PhosphateNeutropeniaSLC37A4Case report |
| spellingShingle | Zakaria Kasmi Imane Ain El Hayat Zahra Aadam Abderrahmane Errami Ibtihal Benhsaien Jalila EL Bakkouri Dalal Ben Sabbahia Meryem Atrassi Ahmed Aziz Bousfiha Fatima Ailal Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report BMC Medical Genomics GSD-Ib Glucose-6-Phosphate Neutropenia SLC37A4 Case report |
| title | Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report |
| title_full | Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report |
| title_fullStr | Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report |
| title_full_unstemmed | Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report |
| title_short | Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report |
| title_sort | hypercalcemia and co occurring tbx1 mutation in glycogen storage disease type ib case report |
| topic | GSD-Ib Glucose-6-Phosphate Neutropenia SLC37A4 Case report |
| url | https://doi.org/10.1186/s12920-024-02057-5 |
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