A novel genotype c.1228C G-c.1448C-1498C [L371V-Rec-NciI] in a 3-year-old child with type 1 Gaucher disease

• Autorzy: Yassin N A , Muwakkit S A , Ibrahim A O , Kayim I M , Habbal M -Z M , Chamseddine N M , Musallam K M , Shamseddine A I
• Języki publikacji: EN

Abstrakty

EN

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.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2008
• Tom: 49
• Numer: 4
• Opis fizyczny: p.421-424,ref.

Twórcy

autor

Yassin N A

• Children's Hematology/Oncology Unit, Department of Pediatrics, Makassed Hospital, Beirut, Lebanon

autor

Muwakkit S A

• Children's Cancer Center, Depatrment of Pediatrics, American University of Beirust Medical Center, Beirut, Lebanon

autor

Ibrahim A O

• Hematology, Oncology & Bone Marrow Transplantation Center, Makassed Hospital, Beirut, Lebanon

autor

Kayim I M

• Medical Laboratory, University of Balamand, Beirut, Lebanon

autor

Habbal M -Z M

• Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon

autor

Chamseddine N M

• Department of Hematology/Oncology, Saint George Hospital-Balamand University Medical Center, Beirut, Lebanon

autor

Musallam K M

• Division of Hematology/Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon

autor

Shamseddine A I

• Division of Hematology/Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon

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