Metabolic Disorders in Childhood

Recent technological advances have enabled a comprehensive study of molecular events and enriched our understanding of genetic metabolic diseases. These relatively uncommon disorders are inherited recessively with an often nonspecific clinical presentation. Their diagnosis requires the exclusion of more common events, multiple subspecialty consultations, and reference laboratory expertise. Early diagnosis and detection may greatly improve the outcome. Many patients are responsive to dietary management or enzyme replacement therapies. Carrier detection and prenatal screening allow for future considerations.