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2 Disorders of Neurotransmitter Metabolism Keith Hyland Introduction This chapter will focus on primary disorders of serotonin and catechol- amine (biogenic amine) metabolism and the defect affecting the glycine re- ceptor (hyperekplexia). Secondary disorders of biogenic amine metabolism are described elsewhere (disorders , , , , , , ). n Disorders of Serotonin and Catecholamine Metabolism Described defects in biogenic amine metabolism include deficiencies of ty- rosine hydroxylase (TH) (EC ) [1, 2], aromatic L-amino acid decar- boxylase (AADC) (EC ) [3], dopamine b-hydroxylase (DbH) (EC. ) [4, 5] and monoamine oxidase (MAO) (EC ). MAO defi- ciency has been described as an isolated defect of MAO-A [6] and as a de- ficiency of either MAO-A or MAO-B, or both, in association with Norrie disease [7].
This chapter will focus on primary disorders of serotonin and catechol-amine (biogenic amine) metabolism and the defect affecting the glycine re-
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