Atlas of Inherited Metabolic Diseases, 3rd ed.

Abstract

As much as one-fourth of the human genome and about one-third of disease genes encode enzymes. Among these are the canonical genes that directly regulate metabolism, with most other genes coding for transcription factors, receptors, and modifiers of protein function, many of which also influence metabolism. The consequences of many metabolic gene defects exhibit a predilection for manifesting in neural and muscular tissues. However, most neurologists believe that metabolic diseases are too arcane, diverse, or intractable, yet all are reminded of the sobering reflection that Dr George F. Hoffmann wrote in the foreword to this splendid atlas: