Title: Role of mechanistic information in the risk assessment of agrochemicals
Abstract: Inborn errors of amino acid metabolism encompass diverse entities, including disorders which are caused by enzyme deficiencies in the metabolic pathway of one or more amino acid(s) or, rarely, a transport abnormality. The focus is on Phenylketonuria, Tyrosinemia Type 1, Urea Cycle defects, disorders of branched-chain amino acid metabolism (eg, Maple Syrup Urine Disease, Isovaleric Aciduria, Propionic Aciduria, Methylmalonic Aciduria), and Homocystinuria. Furthermore, Glutaric Aciduria Type 1, Nonketotic Hyperglycinemia, and a selection of amino acid transport defects will be discussed. This chapter provides an introduction on underlying metabolic derangements and diagnostic principles in conjunction with treatment summaries. For many of these disorders, ongoing clinical assessments of patients together with monitoring of disease-specific biochemical parameters and individualized therapies, including diets/medications, remain essential. For most of the severe forms, there is also the need to implement emergency treatment as indicated, and to optimize current therapeutic strategies in order to maximize long-term outcomes.
Publication Year: 2009
Publication Date: 2009-08-04
Language: en
Type: article
Indexed In: ['crossref']
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