Chapter 414: Inherited Defects of Membrane Transport

INTRODUCTION

Specific membrane transporters mediate the passage of a wide variety of substances across cellular membranes. Classes of substrates include amino acids, sugars, cations, anions, vitamins, and water. The number of inherited disorders of membrane transport continues to increase with the identification of new transporters on the plasma membrane or intracellular organelles and the clarification of the molecular basis of diseases with previously unknown pathophysiology. The first transport disorders identified affected the gut or the kidney, but transport processes are now proving essential for the normal function of every organ. Mutations in transporter molecules cause disorders of the heart, muscle, brain, and endocrine and sensory organs (Table 414-1). Inherited defects impairing the transport of selected amino acids that can present in adults are discussed here as examples of the abnormalities encountered; others are considered elsewhere in this text.