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

• Autorzy: 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
• 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.

Słowa kluczowe

EN

GAUCHER DISEASE; GENOTYPE; IMIGLUCERASE; PHENOTYPE

• Czasopismo: Journal of Applied Genetics
• Rocznik: 2008
• Tom: 49
• Numer: 4
• Strony: 421-424

Twórcy

autor

N.A. Yassin

autor

S.A. Muwakkit

autor

A.O. Ibrahim

autor

I.M. Kayim

autor

M.-Z.M. Habbal

autor

N.M. Chamseddine

autor

K.M. Musallam

autor

A.I. Shamseddine

• Typ dokumentu: ARTICLE
• Bibliografia: 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