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Sammanfattning

Biochemical knowledge about inborn errors of metabolism has increased considerably and new biochemical technology has improved our diagnostic possibilities. Therapy includes diet with substrate restriction and supplementation of deficient metabolites, medical reduction of substrate, inhibition of catabolic pathways, vitamins, enzyme substitution, enzyme stabilisation, and transplantation. A future possibility is somatic gene therapy. Treatment of many metabolic disorders is now possible, but it is important to establish both national and international expertise for proper use of new therapies and their evaluation.

MeSH