inborn errors of metabolism inborn errors of metabolism inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. the majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). in most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. to this concept it's possible to include the new term of enzymopathy. this term was created following the study of biodynamic enzymology, a science based on the study of the enzymes and their derivated products. finally, inborn errors of metabolism were studied for the first time by british physician archibald garrod (1857–1936), in 1908. he is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. his seminal text, inborn errors of metabolism, was published in 1923. classification and symptoms of metabolic diseases