title: A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease.
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.
authors.affiliation: Children's Hematology/Oncology Unit, Department of Pediatrics, Makassed Hospital, Beirut, Lebanon.
authors.forename: Nabil A
authors.initials: NA
authors.lastname: Yassin
authors.forename: Samar A
authors.initials: SA
authors.lastname: Muwakkit
authors.forename: Ahmad O
authors.initials: AO
authors.lastname: Ibrahim
authors.forename: Imad M
authors.initials: IM
authors.lastname: Kayim
authors.forename: Mohammad-Zohair M
authors.initials: MZ
authors.lastname: Habbal
authors.forename: Nabil M
authors.initials: NM
authors.lastname: Chamseddine
authors.forename: Khaled M
authors.initials: KM
authors.lastname: Musallam
authors.forename: Ali I
authors.initials: AI
authors.lastname: Shamseddine
mesh_terms: D001827:Body Height / Q000187:drug effects; D001835:Body Weight / Q000187:drug effects; D002675:Child, Preschool; D004393:Dwarfism, Pituitary / Q000150:complications / Q000188:drug therapy; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000235:genetics; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics* / Q000627:therapeutic use; D006801:Humans; D009154:Mutation
chemical_list: D005962:Glucosylceramidase; C090568:imiglucerase