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SCIENTIFIC DISCUSSION 1. Introduction

1/16 EMEA 2007 SCIENTIFIC DISCUSSION 1. Introduction Homocystinuria is a serious life-long disease and is associated with a high morbidity and mortality. Treatment aims to reduce homocysteine accumulation and to restore the transmethylation capacity by normalising the concentrations of S-adenosylmethionine (SAH) and S-adenosylhomocysteine (SAM). Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine leading to accumulation of homocysteine in the blood and urine.

1/16 ©EMEA 2007 SCIENTIFIC DISCUSSION 1. Introduction Homocystinuria is a serious life-long disease and is associated with a high morbidity and mortality.

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