Hereditary metabolic disease in infancy

Abstract

This review draws the attention of neonatologists and pediatricians to recently described, important hereditary metabolic disorders that may present in early infancy. It also reports new information on more familiar conditions. The discussion is divided into four areas: 1) defects of the electron transport chain; 2) the peroxisomal disorders; 3) inborn errors of small molecules that cause congenital malformations; and 4) several other recently identified metabolic diseases, namely the blood-brain barrier glucose transport defect, disorders of bile acid synthesis, and the carbohydrate-deficient glycoprotein syndrome. Several of these inborn errors illustrate new pathophysiologic principles. Clinical recognition of these conditions is critical to proper management of both the infant, for whom effective specific treatment may be available, and the family, who must be made aware of the genetic implications of the disease.