SPECTRUM OF BIOCHEMICAL-GENETIC DISEASES IN NORTH-INDIA

We have attempted to evaluate the incidence of various biochemical gen etic diseases at the Advanced Pediatric Centre of North West India by measuring abnormal levels of metabolites and by assaying specific abno rmal enzyme activities in the serum, urine and sweat of 2,024 children with various genetic disorders. Cases of Wilson's disease were furthe r screened, of which 48 were confirmed. Among the aminoacidopathies, t he incidence of homocystinuria was highest (9.24%). Galactosaemia was also prominent in this region. Of the total diagnosed cases, the propo rtion of cystic fibrosis (reported to be very rare among Indians gener ally, was surprisingly high (7.56%). There were also 18 cases of mucop olysaccharidosis, which amounted to 15.12% of the total cases. A few c ases of acrodermatitis enteropathica and lipid storage conditions such as Tay-Sachs disease, general gangliosidosis and metachromatic leucod ystrophy were also detected. Med Sci Res 26:455-456 (C) 1998 Lippincot t-Raven Publishers.