A Novel Approach To The Definitive Diagnosis Of Enzymopathies 1381-1388
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 – 400 014.
Tel. Clinic - 2410 5924, 2415, 2751 Res. -2515 1226
Mob. - 9821461434 Email - firstname.lastname@example.org
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.