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先天性代謝異常症
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Wikipedia definition
1. Inborn error of metabolism​Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds.
Read “Inborn error of metabolism” on English Wikipedia
Read “先天性代謝異常症” on Japanese Wikipedia
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