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Galactosemia is an inherited metabolic abnormality comprising three distinctive clinical entities of the galactose pathway defects. Classic galactosemia is due to -Dgalactose- 1-phosphate-uridyl-transferase (GALT) defect (1). The test principle is based on extraction of Galactose & Galactose-1-phosphate from dried blood spot followed by enzymatic conversion of Galactose-1-phosphate & Galactose. Two kinds of extraction methods (acidic and heat) can be used for extraction step.

Congenital Adrenal Hyperplasia (CAH) includes a group of disorders in which the cortisol production by adrenals is lowered. Cortisol is a steroid hormone necessary to maintenance of blood sugar level, partial maintenance of body fluids and electrolytes and protection of the body against stress. CAH cannot be cured, but it can be effectively treated by steroid substitution therapy if detected in early stage of life and disease course.