Simple Tests and Routine Chemistry

Abstract

A variety of routine chemistry tests are useful in both specialist and non-specialist laboratories to assist in the differential diagnosis of inherited metabolic disorders. We provide a list of metabolic diseases associated with abnormalities in urine tests (color, odor, ferric chloride, reducing substances, DNPH, Acetest, nitroprusside test) and routine blood chemistry (hypoglycemia, hyperglycemia, hyperammonemia, hyperlactatemia, low and high creatinine, acidosis, alkalosis, hypocholesterolemia, hypercholesterolemia, hypertriglyceridemia, increased liver transaminases, increased creatine kinase, increased lactate dehydrogenase, hyperphosphatasemia, hypophosphatasemia, decreased and increased urea nitrogen, hyperuricemia and hypouricemia, hyperferritinemia and hypoferritinemia, myoglobinuria, anemia, thrombocytopenia, neutropenia, and reticulocytosis). Although some of these tests are considered obsolete in modern metabolic laboratories, we decided to include them in this chapter from the historic point of view and to maintain the information for laboratories in developing countries.