Congenital metabolic diseases of pediatric patients: anesthetic implications.

The large number of congenital metabolic disorders makes a complete discussion of 
the biochemical problems, hazards, pharmacologic implications, and anesthetic recommendations for each 
impossible. This review is confined to discussion of certain aspects of 
several genetically acquired diseases of metabolism which the anaesthesiologist may be 
called upon to manage in the pediatric patient. Every genetic metabolic 
disease is the result of a specific enzyme defect (or defects) 
in function or in amount. In this review, diseases in which 
defects are known (e.g., homocystinuria), suspected (e.g., myotonia congenita), and unknown 
(e.g., cystic fibrosis) are discussed. Therapeutic approaches to genetic metabolic disease 
include: supplying the missing product; preventing substrate accumulation; preventing alternate product 
synthesis; enzyme induction; enzyme replacement; increasing deficient function with cofactor administration; 
and compensatory therapy. Obviously, the ideal way to treat the consequences 
of a genetic disease is to normalize the patient biochemically. For 
diseases where the pathophysiology is clear, this goal is approachable; for 
conditions where the pathophysiology is unknown, only compensatory therapy is possible. 
