A Novel Approach To The Definitive Diagnosis Of Enzymopathies
DR. BALKRISHNA. N. APTE
Consultant Medical Geneticist and Project and Programme Director,
Vidyasagar Institute of Genetic Studies and Research,
Rail View, Opp.Swaminarayan Temple, Dadar (East), Mumbai â€“ 400 014.
Tel. Clinic - 2410 5924, 2415, 2751 Res. -2515 1226
Mob. - 9821461434 Email - email@example.com
Enzyme estimations are invariably carried out using synthetic chromogenic or fluorogenic substrates, which are structurally very simple as compared to the natural substrates. A defective enzyme resulting from mutation in the structural gene loses its activity on the natural substrates, leading to a genetic disease. Such an enzyme, at times, may still retain substantial catalytic activity on the synthetic substrate. If the enzyme activity falls within the normal range, the situation poses a problem in the diagnosis of the patient. To circumvent this situation, we have invented a novel approach which has enabled us to arrive at an unambiguous, definitive diagnosis of patients. Our novel approach will be presented here.