Inherited Aminoacidopathies Demonstrating Vitamin Dependency

Abstract

TWO very old topics form the basis for this presentation: inherited disorders of amino acid metabolism; and the biochemical and clinical importance of vitamins. The former subject originated in Garrod's lectures in 1908,¹ which formalized the concept of inborn errors of metabolism and dealt with three disorders involving amino acids: alcaptonuria, albinism and cystinuria. The concept of vitamins was introduced in 1912 by Funk,² who used the word "vitamine" in his study of beriberi to refer to a postulated amine in rice polishings that was essential to life.Progress in both areas has accelerated rapidly during the past two decades. . . .