Treatment: Present Status and New Trends
Improvements in the understanding of the biochemical and molecular basis of inborn errors have led to significant improvements in our ability to treat many of these disorders. Such improvements, coupled with an ability to make more rapid diagnoses and advances in general medical care, particularly intensive care, are resulting in better long-term prognosis for many patients. However, the rarity of individual disorders has often made it difficult or impossible to obtain sufficient data for evidence-based assessment of treatments. This should be kept in mind when considering the efficacy of particular therapies. Anecdotal reports of improvements should be reviewed critically, but it is equally important to remain open to new advances. This chapter discusses recent progress in the development of treatments. We have also included a list of medications (with recommended dosages) that may be used in the treatment of inborn errors (Table 5.1). Readers should refer to the relevant chapters for detailed information about the management of specific disorders and to Chap. 4, “Psychosocial Care of the Child and Family”, for discussion of the psychological consequences of treatment.
KeywordsEnzyme Replacement Therapy Fabry Disease Gauche Disease Inborn Error Monohydrate Creatine
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