Treatment of inborn errors of metabolism.
OBJECTIVE
To describe the current state of treatment for disorders of intermediate metabolism (primarily of amino acids, urea cycle and organic acids) and for diseases related to two subcellular organelles (lysosomes and peroxisomes).


METHODS
In covering the treatment of disorders of intermediate metabolism, priority was given to the most important methods for managing intoxication, in view of the importance for pediatricians to treat acute and life-threatening cases. The article also provides a general overview of the treatment for lysosomal and peroxisomal diseases, with emphasis on enzyme replacement therapy, which is a treatment modality that is growing in use and with which pediatricians should make themselves familiar.


RESULTS
The most important measures used to manage the intoxication present in many inborn errors of intermediate metabolism were presented (restriction of substrate build-up by means of diet or enzymatic inhibition, removal of toxic products, stimulation of residual enzyme activity, replacement of the deficient product). The section on treatment for lysosomal and peroxisomal diseases includes tables providing information on the treatments available.


CONCLUSIONS
Treating inborn errors of metabolism is a complex task that should be performed by a multidisciplinary team of which the pediatrician is the key member. This article provides practical information relating to the management of some inborn errors of metabolism and provides pediatricians with a general overview of recent developments in this area of medicine.
Schwartz
Ida Vanessa
IV
Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Souza
Carolina Fischinger Moura de
CF
Giugliani
Roberto
R