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Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.

BMC medical genomics - 7 Jan 2025

Kasmi Zakaria, Ain El Hayat Imane, Aadam Zahra, Errami Abderrahmane, Benhsaien Ibtihal, El Bakkouri Jalila, Ben Sabbahia Dalal, Atrassi Meryem, Bousfiha Ahmed Aziz, Ailal Fatima

Abstract excerpt

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,...

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PMID: 39773724
DOI: 10.1186/s12920-024-02057-5

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