Agha Shabbir Ali, Asim Mumtaz, Muhammad Yaqoob.
Experience of enzyme replacement therapy in type-III Gaucher disease in Pakistan.
Pak J Pathol Jan ;10(3):91-6.

Gaucher disease is the prototype of metabolic disease where enzyme replacement therapy (ERT) has been introduced and found successful. Most of thus therapy has been practiced in type-1 disease with variable but encouraging results. Worldwide few patients of type-III Gaucher disease are receiving enzyme replacement therapy One of these is our patient Mahmood Ali. He was diagnosed type-III Gaucher disease at three year age. Diagnosis was based on demonstration of Gaucher cells in bone marrow and reduced leucocyte level of enzyme beta glucocerebrosidase. Chromosomal study revealed homozygous for L(444P) mutation. Treatment with enzyme ceredase (Alglucerase injection) was started in a high dose of 120 units/kg/dose every two weeks. Uptil now, forty infusions of Ceredase have been given. His liver and spices has regressed to non palpable size, marked improvement in physical growth and neurological development has been observed, seizure activity has reduced to just 1 episode/ 3-4 months of 15-20 seconds duration. It is concluded that type-III Gaucher disease is responsne to enzyme replacement therapy (ERT) if given in a high dose (120 U/kg/dose). Such therapy can be successfully practiced in Pakistan if supported.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com