• Uzma Shah
  • Naila Nadeem
  • Yousef Husen
  • Zehra Fadoo


Gaucher’s disease is an inherited lysosomal storage disorder with a deficiency of the enzymeglucocerbrosidase that manifests with clinical features of anemia, hepato-splenomegaly, skeletaldestruction and organ dysfunction due to the accumulation of glucocerbrosides. There are severaltypes of Gaucher’s disease with varying prognosis and clinical progression of disease. Wedescribe two cases followed at the Aga Khan University, Karachi, Pakistan, with different formsof the disorder. The enzyme Imiglucerase (Cerezyme, Genzyme) has been used to treat Type 1Gaucher disease while the neuronopathic type has been resistant to therapy. We used Imiglucerase60 µg/kg every 2 weeks in one patient with Type 1 Gaucher disease and followed hepatic, splenicvolumes and blood counts. Treatment with Imiglucerase resulted in a decrease in splenic size,reduced requirements for transfusions and an improvement in cardiopulmonary symptoms.Keywords: Gaucher; Imiglucerase


Charrow J, Andersson HC, Kaplan P, Kolodny E, Mistry P,

Pastores G et al. The Gaucher registry: demographics and

disease characteristics of 1698 patients with Gaucher disease.

Arch Intern Med 2000; 160:2835-43.

Gaucher disease. Current issues in diagnosis and treatment.

NIH Technology Assessment Panel on Gaucher Disease.

JAMA 1996; 275:548-53

Morales LE. Gaucher's disease: a review. Ann Pharmacother


Brady RO, Barton NW, Grabowski GA. The role of

neurogenetics in Gaucher disease. Arch Neurol


Grabowski GA. Lysosomal storage diseases. In: Braunwald

E, Fauci AS, editors. Harrison's Principles of Internal

Medicine. 15th ed. New York, NY: McGraw-Hill; 2001. p.


Zimran A, Gelbart T, Westwood B, Grabowski GA,

Beutler G. High frequency of the Gaucher disease mutation

at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet


Grabowski G. Gaucher disease: enzymology, genetics, and

treatment. In: Harris H, Hirshchorn K, editors. Advances in

Human Genetics. New York, NY: Plenum Press; 1993. p.


Cox TM, Schofield JP. Gaucher's disease: clinical features

and natural history. Bailliere's Clinical Haematology


Rice E, Mifflin TE, Sakallah S, Lee RE, Sansieri CA,

Barrenger JA. Gaucher disease: study of phenotype,

molecular diagnosis and treatment. Clin Genet 1996;


Charrow J, Esplin JA, Gribble TJ, Kaplan P, Kolodny EH,

Pastores GM et al Gaucher disease: recommendations on

diagnosis, evaluation, and monitoring. Arch Intern Med


Karem E, Elstein D, Abrahamov A, Bar Ziv Y, Hadas

Halpern I, Melzer E et al. Pulmonary function abnormalities

in type 1 Gaucher disease. Eur Respir J 1996; 9(2)340-45.

Verderese C, Graham OC, Holder-McShane C, Harnett NE,

Barton NW. Gaucher's disease: a pilot study of the

symptomatic responses to enzyme replacement therapy. J

Neurosci Nurs 1993; 25(5):296-301.

Wilcox WR. Lysosomal storage disorders: The need for

better pediatric recognition and comprehensive care. J Pediatr

; 144(5 Suppl):S3-14.

Grabowski G. Gaucher disease: Lessons from a decade of

therapy. J Pediatr 2004; 144(5Suppl):S15-9.

Charrow J, Adersson H, Kaplan P, Kolodny EH, Mistry P,

Pastrores G et al. Enzyme replacement therapy and

monitoring for children with type 1 Gaucher disease:

Consensus recommendations. J Pediatr 2004; 144(1):112-20.

Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM,

Prakash,-Cheng A et al. Individualization of long term

enzyme replacement therapy for Gaucher disease. Genet Med

; 7(2):105.

Heitner R, Arndt S, Levin JB. Imiglucerase low dose therapy

for pediatric Gaucher disease: a long term cohort study. S Afr

Med J 2004; 94(8):647-51.

Elstein D, Abrahamov A, Hadas Halpern I, Zimran A.

Withdrawl of enzyme replacement therapy in Gaucher

disease. Br J Haematol 2000; 110(2):488-92.

Pastores GM, Barnett NL, Kolodny EH. An open-label,

noncomparative study of miglustat in type I Gaucher disease:

efficacy and tolerability over 24 months of treatment. Clin

Ther. 2005;27(8):1215-27.

J Ayub Med Coll Abbottabad 2007; 19(2)

Jmoudiak M, Futerman AH. Gaucher disease: pathological

mechanisms and modern management. Br J Haematol 2005;


Lonser RR, Walbridge S, Murray GJ, Ayzenberg MR,

Votmeyer AO, Aerts JM et al. Convection perfusion of

glucocerebrosidase for neuronopathic Gaucher disease. Ann

Neurol 2005;57(4): 542-48.

Dunbar CE, Kohn DB, Schiffman R, Barton NW, Nolta JA,

Esplin JA et al. Retroviral transfer of the glucocerbrosidase

gene into CD34+ cells from patients with Gaucher disease; in

vivo detection of transduced cells without myeloablation.

Hum Gene Ther 1998;9: 2629-40.