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

• Authors: N.A. Yassin , S.A. Muwakkit , A.O. Ibrahim , I.M. Kayim , M.-Z.M. Habbal , N.M. Chamseddine , K.M. Musallam , A.I. Shamseddine
• Languages of publication: EN

Abstracts

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.

Keywords

EN

GAUCHER DISEASE   GENOTYPE   IMIGLUCERASE   PHENOTYPE  

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2008
• Volume: 49
• Issue: 4
• Pages: 421-424
• Document Type: ARTICLE
• Publication order reference: Samar A. Muwakkit, Children?s Cancer Center, Department of Pediatrics, American University of Beirut Medical Center, P.O. Box: 11-0236, Riad El Solh 1107 2020, Beirut ? Lebanon