Inborn Errors of Metabolism

Inborn errors of metabolism (IEM) are a large group of monogenic disorders, usually autosomal recessive, in which a single enzyme defect blocks a metabolic pathway. The result is accumulation of toxic precursors, deficiency of essential products, or both. They are a perennial favourite in NEET PG paediatrics and genetics, tested through odour clues, classic enzyme defects, urine/blood findings, and the diet/drug of c…