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A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease |
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| Authors: | Nabil A. Yassin Samar A. Muwakkit Ahmad O. Ibrahim Imad M. Kayim Mohammad-Zohair M. Habbal Nabil M. Chamseddine Khaled M. Musallam Ali I. Shamseddine |
| Affiliation: | 1. Children’s Hematology/Oncology Unit, Department of Pediatrics, Makassed Hospital, Beirut, Lebanon 2. Children’s Cancer Center, Department of Pediatrics, American University of Beirut Medical Center, Riad El Solh, P.O. Box: 11-0236, 1107 2020, Beirut, Lebanon 3. Hematology, Oncology & Bone Marrow Transplantation Center, Makassed Hospital, Beirut, Lebanon 4. Medical Laboratory, University of Balamand, Beirut, Lebanon 5. Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon 6. Department of Hematology/Oncology, Saint George Hospital-Balamand University Medical center, Beirut, Lebanon 7. Division of Hematology/Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon |
| Abstract: | Gaucher disease (GD) is an autosomal recessive inborn error of metabolism, resulting from a deficiency of the enzyme glucocerebrosidase, causing an accumulation of the glycolipid glucocerebroside within lysosomes of macrophages in the reticuloendothelial system. Three major clinical forms have been assigned and more than 200 gene mutations have been identified. We herein report a Lebanese boy born with a novel combined mutation L371V/Rec-NciI, who presented with moderate-severe type 1 GD. An overview of the clinical and biomarker improvement following enzyme replacement therapy with imiglucerase is described in a follow-up of 30 months. Imiglucerase seems to be efficacious in decreasing the severity of the disease associated with this mutation. However, a high dose may be required to achieve optimal growth, platelet count, and hemoglobin level. |
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